BTHLM1
MCID: BTH005
MIFTS: 53

Bethlem Myopathy 1 (BTHLM1)

Categories: Genetic diseases, Muscle diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Bethlem Myopathy 1

MalaCards integrated aliases for Bethlem Myopathy 1:

Name: Bethlem Myopathy 1 58 76 30 6
Bethlem Myopathy 58 12 77 54 60 76 38 30 13 56 15 74
Myopathy, Benign Congenital, with Contractures 58 54 76
Muscular Dystrophy, Benign Congenital 58 54 76
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 5 58 76
Bthlm1 58 76
Lgmdd5 58 76
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 5; Lgmdd5 58
Benign Congenital Muscular Dystrophy 12
Benign Autosomal Dominant Myopathy 60
Myopathy, Bethlem, Type 1 41
Myopathy, Bethlem 41

Characteristics:

Orphanet epidemiological data:

60
bethlem myopathy
Inheritance: Autosomal dominant,Autosomal recessive; Age of onset: Childhood,Infancy; Age of death: normal life expectancy;

OMIM:

58
Inheritance:
autosomal recessive
autosomal dominant

Miscellaneous:
variable severity
slow progression
onset usually in early childhood, although ranges from birth to adulthood
approximately half of patients need ambulatory support after the fifth decade
ullrich congenital muscular dystrophy is an allelic disorder with autosomal recessive inheritance and a more severe phenotype


HPO:

33

Classifications:

Orphanet: 60  
Rare neurological diseases


Summaries for Bethlem Myopathy 1

NIH Rare Diseases : 54 Bethlem myopathy is a rare disease affecting the skeletal muscles and connective tissue. The disease is characterized by slowly progressive muscle weakness and joint stiffness (contractures). It most often affects the fingers, wrists, elbows, and ankles. Signs and symptoms may begin before birth (with decreased fetal movements), shortly after birth (with low muscle tone or torticollis), in early childhood (with delayed motor skills, muscle weakness, and contractures), or in adulthood (with weakness, Achilles tendon, or finger contractures). Due to the disease's progression, most people with Bethlem myopathy over age 50 require mobility aids (such as a cane, crutches, or wheelchair) for outdoor mobility. Rarely, severe muscle weakness may lead to respiratory difficulties in later life.   Bethlem myopathy is caused by mutations (changes) in the COL6A1, COL6A2, or COL6A3 genes. Most cases are inherited in an autosomal dominant manner, but in rare cases the disease is autosomal recessive. The diagnosis is based on clinical examination and laboratory tests, but genetic testing may confirm the diagnosis. Treatment depends on individual symptoms but routinely involves physical therapy. Surgery to correct joint contractures may be needed.

MalaCards based summary : Bethlem Myopathy 1, also known as bethlem myopathy, is related to collagen vi-related myopathy and muscle disorders. An important gene associated with Bethlem Myopathy 1 is COL6A1 (Collagen Type VI Alpha 1 Chain), and among its related pathways/superpathways are PI3K-Akt signaling pathway and Focal adhesion. Affiliated tissues include testes, skeletal muscle and skin, and related phenotypes are joint stiffness and emg abnormality

Disease Ontology : 12 A congenital muscular dystrophy that is characterized by myopathy and joint contractures that progresses slowly, has material basis in autosomal dominant inheritance of heterozygous mutation in the COL6A1 gene, the COL6A2 gene, or the COL6A3 gene.

UniProtKB/Swiss-Prot : 76 Bethlem myopathy 1: A benign proximal myopathy characterized by early childhood onset and joint contractures most frequently affecting the elbows and ankles.

Wikipedia : 77 Bethlem myopathy is an autosomal dominant myopathy, classified as a congenital form of muscular... more...

Description from OMIM: 158810

Related Diseases for Bethlem Myopathy 1

Diseases in the Bethlem Myopathy 1 family:

Bethlem Myopathy 2

Diseases related to Bethlem Myopathy 1 via text searches within MalaCards or GeneCards Suite gene sharing:

(showing 51, show less)
# Related Disease Score Top Affiliating Genes
1 collagen vi-related myopathy 32.2 COL6A1 COL6A2 COL6A3
2 muscle disorders 31.2 COL6A1 COL6A2 COL6A3 SELENON
3 ullrich congenital muscular dystrophy 1 31.2 CAPN3 COL12A1 COL6A1 COL6A2 COL6A3 COL6A5
4 myopathy 30.5 CAPN3 COL6A1 COL6A2 COL6A3 DYSF SELENON
5 muscular dystrophy, becker type 30.1 DMD DYSF
6 muscular dystrophy, congenital, lmna-related 29.7 B3GALNT2 COL6A1 COL6A2 COL6A3 DMD LMNA
7 limb-girdle muscular dystrophy 29.6 CAPN3 DMD DYSF LMNA
8 muscular dystrophy 27.9 B3GALNT2 CAPN3 COL12A1 COL6A1 COL6A2 COL6A3
9 bethlem myopathy 2 12.6
10 collagen vi related muscular dystrophy 11.4
11 ullrich congenital muscular dystrophy 2 11.2
12 keloids 10.3
13 localized lipodystrophy 10.2 DMD DYSF
14 keloid formation 10.1
15 muscular dystrophy, limb-girdle, autosomal recessive 1 10.1
16 myosclerosis, autosomal recessive 10.1
17 myopathy, myofibrillar, 3 10.1
18 ptosis 10.1
19 benign autosomal dominant myopathy 10.1
20 limb-girdle muscular dystrophy type 1a 10.1
21 polyglucosan body myopathy 1 with or without immunodeficiency 10.1 CAPN3 DMD
22 isolated hyperckemia 10.1 CAPN3 DMD
23 myopathy, proximal, and ophthalmoplegia 10.0 COL6A1 COL6A2 LMNA
24 cardiomyopathy, dilated, 1a 10.0 DMD LMNA
25 emery-dreifuss muscular dystrophy 2, autosomal dominant 10.0 COL6A2 LMNA
26 stormorken syndrome 10.0 DMD DYSF
27 hypotonia 10.0
28 autosomal recessive limb-girdle muscular dystrophy type 2f 10.0 CAPN3 DYSF
29 autosomal recessive limb-girdle muscular dystrophy type 2g 10.0 CAPN3 DYSF
30 autosomal recessive limb-girdle muscular dystrophy type 2d 10.0 CAPN3 DYSF
31 autosomal recessive limb-girdle muscular dystrophy type 2a 9.9 CAPN3 DYSF
32 muscular dystrophy, limb-girdle, autosomal recessive 8 9.9 CAPN3 DYSF
33 muscular dystrophy, congenital merosin-deficient, 1a 9.9 B3GALNT2 DMD LMNA
34 dysferlinopathy 9.9 CAPN3 DYSF
35 muscular dystrophy-dystroglycanopathy , type c, 5 9.9 CAPN3 DYSF
36 muscular dystrophy-dystroglycanopathy , type b, 5 9.9 DMD LMNA
37 myopathy, congenital 9.9 DMD DYSF SELENON
38 muscular dystrophy-dystroglycanopathy 9.8 B3GALNT2 GMPPB
39 autosomal recessive limb-girdle muscular dystrophy 9.8 CAPN3 DMD DYSF
40 autosomal recessive limb-girdle muscular dystrophy type 2c 9.8 CAPN3 DMD DYSF
41 autosomal recessive limb-girdle muscular dystrophy type 2b 9.8 CAPN3 DMD DYSF
42 muscular dystrophy, limb-girdle, autosomal recessive 7 9.8 CAPN3 DMD DYSF
43 muscular dystrophy, limb-girdle, autosomal recessive 6 9.8 CAPN3 DMD DYSF
44 miyoshi muscular dystrophy 9.8 CAPN3 DMD DYSF
45 myositis 9.8 CAPN3 DMD DYSF
46 intrinsic cardiomyopathy 9.8 DMD LMNA
47 rigid spine muscular dystrophy 1 9.8 COL6A2 DMD DYSF SELENON
48 walker-warburg syndrome 9.7 B3GALNT2 DMD GMPPB
49 congenital fiber-type disproportion 9.6 DMD DYSF LMNA SELENON
50 muscle tissue disease 9.4 CAPN3 COL6A1 DMD DYSF LMNA
51 muscular disease 8.3 CAPN3 COL6A1 COL6A2 COL6A3 DMD DYSF

Graphical network of the top 20 diseases related to Bethlem Myopathy 1:



Diseases related to Bethlem Myopathy 1

Symptoms & Phenotypes for Bethlem Myopathy 1

Human phenotypes related to Bethlem Myopathy 1:

60 33 (showing 25, show less)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 joint stiffness 60 33 hallmark (90%) Very frequent (99-80%) HP:0001387
2 emg abnormality 60 33 hallmark (90%) Very frequent (99-80%) HP:0003457
3 cachexia 60 33 hallmark (90%) Very frequent (99-80%) HP:0004326
4 camptodactyly of finger 60 33 hallmark (90%) Very frequent (99-80%) HP:0100490
5 progressive proximal muscle weakness 60 33 hallmark (90%) Very frequent (99-80%) HP:0009073
6 neonatal hypotonia 60 33 frequent (33%) Frequent (79-30%) HP:0001319
7 joint laxity 60 33 frequent (33%) Frequent (79-30%) HP:0001388
8 multiple joint contractures 60 33 frequent (33%) Frequent (79-30%) HP:0002828
9 torticollis 60 33 frequent (33%) Frequent (79-30%) HP:0000473
10 muscular dystrophy 60 33 frequent (33%) Frequent (79-30%) HP:0003560
11 ankle contracture 60 33 frequent (33%) Frequent (79-30%) HP:0006466
12 proximal amyotrophy 60 33 frequent (33%) Frequent (79-30%) HP:0007126
13 follicular hyperkeratosis 60 33 occasional (7.5%) Occasional (29-5%) HP:0007502
14 myopathy 33 HP:0003198
15 abnormality of the cardiovascular system 33 HP:0001626
16 respiratory insufficiency due to muscle weakness 33 HP:0002747
17 skeletal muscle atrophy 33 HP:0003202
18 elbow flexion contracture 33 HP:0002987
19 motor delay 33 HP:0001270
20 proximal muscle weakness 33 HP:0003701
21 decreased fetal movement 33 HP:0001558
22 limb-girdle muscle weakness 33 HP:0003325
23 congenital muscular torticollis 33 HP:0005988
24 distal muscle weakness 33 HP:0002460
25 elevated serum creatine kinase 33 HP:0003236

Symptoms via clinical synopsis from OMIM:

58
Muscle Soft Tissue:
delayed motor milestones
muscle weakness, limb-girdle
proximal muscle weakness more severe than distal muscle weakness
extensor muscle weakness more severe than flexor muscle weakness
muscle atrophy, mild, more proximal than distal
more
Cardiovascular Heart:
no cardiac involvement

Skeletal:
contractures

Skeletal Hands:
long finger flexion contractures of the last four fingers

Laboratory Abnormalities:
normal or increased serum creatine kinase

Head And Neck Neck:
torticollis, congenital

Respiratory:
respiratory failure due to muscle weakness may occur in late stages

Skeletal Limbs:
contractures of the elbows
contractures of the ankles

Prenatal Manifestations Movement:
decreased fetal movements may occur

Clinical features from OMIM:

158810

MGI Mouse Phenotypes related to Bethlem Myopathy 1:

47 (showing 1, show less)
# Description MGI Source Accession Score Top Affiliating Genes
1 muscle MP:0005369 9.23 CAPN3 COL12A1 COL6A1 COL6A3 DMD DYSF

Drugs & Therapeutics for Bethlem Myopathy 1

Interventional clinical trials:

(showing 4, show less)
# Name Status NCT ID Phase Drugs
1 Low Protein Diet in Patients With Collagen VI Related Myopathies Completed NCT01438788 Phase 2
2 The Effect of Aerobic Exercise, on Fitness and Functional Muscle Strength, in Patients With Muscular Dystrophy Completed NCT01895283 Not Applicable
3 MR in Patients With Collagen VI Related Myopathies Recruiting NCT03693898 Not Applicable
4 Congenital Muscle Disease Study of Patient and Family Reported Medical Information Recruiting NCT01403402

Search NIH Clinical Center for Bethlem Myopathy 1

Genetic Tests for Bethlem Myopathy 1

Genetic tests related to Bethlem Myopathy 1:

# Genetic test Affiliating Genes
1 Bethlem Myopathy 1 30 COL6A1 COL6A2 COL6A3
2 Bethlem Myopathy 30

Anatomical Context for Bethlem Myopathy 1

MalaCards organs/tissues related to Bethlem Myopathy 1:

42
Testes, Skeletal Muscle, Skin, Heart, Endothelial

Publications for Bethlem Myopathy 1

Articles related to Bethlem Myopathy 1:

(showing 71, show less)
# Title Authors Year
1
Bethlem myopathy: a series of 16 patients and description of seven new associated mutations. ( 30706156 )
2019
2
COL6A1 mutation leading to Bethlem myopathy with recurrent hematuria: a case report. ( 30808312 )
2019
3
Moderate-intensity aerobic exercise improves physical fitness in Bethlem myopathy. ( 31026058 )
2019
4
Two novel COL6A3 mutations disrupt extracellular matrix formation and lead to myopathy from Ullrich congenital muscular dystrophy and Bethlem myopathy spectrum. ( 29894794 )
2018
5
Facial weakness and eyelid ptosis: Expanding the clinical heterogeneity of Bethlem myopathy from a novel gene mutation. ( 27421963 )
2017
6
Bethlem myopathy in a Portuguese patient - case report. ( 29774307 )
2017
7
Keloids, Spontaneous or After Minor Skin Injury: Importance of Not Missing Bethlem Myopathy. ( 27563703 )
2017
8
Bethlem Myopathy Phenotypes and Follow Up: Description of 8 Patients at the Mildest End of the Spectrum. ( 27854213 )
2016
9
A TALEN-Exon Skipping Design for a Bethlem Myopathy Model in Zebrafish. ( 26221953 )
2015
10
Molecular Genetic Diagnosis of a Bethlem Myopathy Family with an Autosomal-Dominant COL6A1 Mutation, as Evidenced by Exome Sequencing. ( 25749816 )
2015
11
Detecting collagen VI in Bethlem myopathy. ( 25795730 )
2015
12
Aberrant mitochondria in a Bethlem myopathy patient with a homozygous amino acid substitution that destabilizes the collagen VI α2(VI) chain. ( 25533456 )
2015
13
Bethlem myopathy: long-term follow-up identifies COL6 mutations predicting severe clinical evolution. ( 25535305 )
2015
14
Reply to Sabatelli et al.: Detecting collagen VI in Bethlem myopathy. ( 25964954 )
2015
15
Nutritional status evaluation in patients affected by bethlem myopathy and ullrich congenital muscular dystrophy. ( 25477818 )
2014
16
Melanocytes from Patients Affected by Ullrich Congenital Muscular Dystrophy and Bethlem Myopathy have Dysfunctional Mitochondria That Can be Rescued with Cyclophilin Inhibitors. ( 25477819 )
2014
17
Spinal Deformity in Bethlem Myopathy. ( 27927380 )
2014
18
Bethlem myopathy: pregnancy and delivery. ( 23832171 )
2014
19
[Study of a Bethlem myopathy pedigree resulted from a novel mutation of COL6A3 gene]. ( 25449070 )
2014
20
Progressive cardiac dysfunction in Bethlem myopathy during pregnancy. ( 24413245 )
2014
21
Muscle MRI in Bethlem myopathy. ( 23595177 )
2013
22
Body composition, muscle strength, and physical function of patients with Bethlem myopathy and Ullrich congenital muscular dystrophy. ( 24163611 )
2013
23
Bethlem myopathy: An autosomal dominant myopathy with flexion contractures, keloids, and follicular hyperkeratosis. ( 24339618 )
2013
24
Spontaneous keloid formation in patients with Bethlem myopathy. ( 23170014 )
2012
25
The collagen VI-related myopathies Ullrich congenital muscular dystrophy and Bethlem myopathy. ( 21496625 )
2011
26
Consensus statement on standard of care for congenital muscular dystrophies. ( 21078917 )
2010
27
Bethlem myopathy: a study of two families. ( 20739820 )
2010
28
Autosomal recessive inheritance of classic Bethlem myopathy. ( 19884007 )
2009
29
Autosomal recessive Bethlem myopathy. ( 19949035 )
2009
30
A refined diagnostic algorithm for Bethlem myopathy. ( 18378883 )
2008
31
Cardiac involvement in Bethlem myopathy. ( 17562947 )
2007
32
Molecular consequences of dominant Bethlem myopathy collagen VI mutations. ( 17886299 )
2007
33
COL6A1 genomic deletions in Bethlem myopathy and Ullrich muscular dystrophy. ( 16278855 )
2006
34
Cardiac and pulmonary investigations in Bethlem myopathy. ( 17101832 )
2006
35
Detection of common and private mutations in the COL6A1 gene of patients with Bethlem myopathy. ( 15955946 )
2005
36
[Collagenopathy (Ullrich congenital muscular dystrophy, Bethlem myopathy)]. ( 16447767 )
2005
37
Muscle MRI in Ullrich congenital muscular dystrophy and Bethlem myopathy. ( 15792870 )
2005
38
Automated genomic sequence analysis of the three collagen VI genes: applications to Ullrich congenital muscular dystrophy and Bethlem myopathy. ( 15689448 )
2005
39
Ullrich congenital muscular dystrophy and Bethlem myopathy: clinical and genetic heterogeneity. ( 16258657 )
2005
40
Muscle ultrasound in Bethlem myopathy. ( 14681763 )
2003
41
New molecular mechanism for Ullrich congenital muscular dystrophy: a heterozygous in-frame deletion in the COL6A1 gene causes a severe phenotype. ( 12840783 )
2003
42
Kinked collagen VI tetramers and reduced microfibril formation as a result of Bethlem myopathy and introduced triple helical glycine mutations. ( 11707460 )
2002
43
Bethlem myopathy (BETHLEM) 86th ENMC international workshop, 10-11 November 2000, Naarden, The Netherlands. ( 11801404 )
2002
44
Novel mutations in collagen VI genes: expansion of the Bethlem myopathy phenotype. ( 11865138 )
2002
45
Novel COL6A1 splicing mutation in a family affected by mild Bethlem myopathy. ( 11932968 )
2002
46
Collagen type VI and related disorders: Bethlem myopathy and Ullrich scleroatonic muscular dystrophy. ( 12374585 )
2002
47
Muscle MRI findings in a three-generation family affected by Bethlem myopathy. ( 12401455 )
2002
48
Bethlem myopathy (BETHLEM) and Ullrich scleroatonic muscular dystrophy: 100th ENMC international workshop, 23-24 November 2001, Naarden, The Netherlands. ( 12467756 )
2002
49
Bethlem myopathy in a black creole pedigree. ( 19078680 )
2002
50
The ABC's of limb-girdle muscular dystrophy: alpha-sarcoglycanopathy, Bethlem myopathy, calpainopathy and more. ( 11562567 )
2001
51
Bethlem myopathy in a Taiwanese family. ( 11480253 )
2001
52
A Bethlem myopathy Gly to Glu mutation in the von Willebrand factor A domain N2 of the collagen alpha3(VI) chain interferes with protein folding. ( 10744632 )
2000
53
Respiratory muscle involvement in Bethlem myopathy. ( 9921869 )
1999
54
A heterozygous splice site mutation in COL6A1 leading to an in-frame deletion of the alpha1(VI) collagen chain in an italian family affected by bethlem myopathy. ( 10329467 )
1999
55
A novel de novo mutation in the triple helix of the COL6A3 gene in a two-generation Italian family affected by Bethlem myopathy. A diagnostic approach in the mutations' screening of type VI collagen. ( 10399756 )
1999
56
Decreased expression of laminin beta 1 in chromosome 21-linked Bethlem myopathy. ( 10407855 )
1999
57
Bethlem myopathy and engineered collagen VI triple helical deletions prevent intracellular multimer assembly and protein secretion. ( 10419498 )
1999
58
Bethlem myopathy: a slowly progressive congenital muscular dystrophy with contractures. ( 10219778 )
1999
59
Missense mutation in a von Willebrand factor type A domain of the alpha 3(VI) collagen gene (COL6A3) in a family with Bethlem myopathy. ( 9536084 )
1998
60
Reduced collagen VI causes Bethlem myopathy: a heterozygous COL6A1 nonsense mutation results in mRNA decay and functional haploinsufficiency. ( 9580662 )
1998
61
Collagen VI deficiency induces early onset myopathy in the mouse: an animal model for Bethlem myopathy. ( 9817932 )
1998
62
Type VI collagen anchors endothelial basement membranes by interacting with type IV collagen. ( 9334230 )
1997
63
Genetic localization of Bethlem myopathy. ( 8618682 )
1996
64
Type VI collagen mutations in Bethlem myopathy, an autosomal dominant myopathy with contractures. ( 8782832 )
1996
65
Evidence for locus heterogeneity in the Bethlem myopathy and linkage to 2q37. ( 8817344 )
1996
66
Bethlem myopathy is not allelic to limb-girdle muscular dystrophy type 1A. ( 8533815 )
1995
67
Bethlem myopathy: early-onset benign autosomal dominant myopathy with contractures. Description of two new families. ( 7881296 )
1994
68
Protein truncation test (PTT) for rapid detection of translation-terminating mutations. ( 8268929 )
1993
69
The heart in Becker muscular dystrophy, facioscapulohumeral dystrophy, and Bethlem myopathy. ( 1584251 )
1992
70
Early-onset benign autosomal-dominant limb-girdle myopathy with contractures (Bethlem myopathy). ( 2803379 )
1989
71
Early-onset benign autosomal dominant limb-girdle myopathy with contractures (Bethlem myopathy). ( 3352914 )
1988

Variations for Bethlem Myopathy 1

UniProtKB/Swiss-Prot genetic disease variations for Bethlem Myopathy 1:

76 (showing 25, show less)
# Symbol AA change Variation ID SNP ID
1 COL6A1 p.Lys121Arg VAR_013580 rs121912936
2 COL6A1 p.Gly305Val VAR_013581
3 COL6A1 p.Gly341Asp VAR_013582 rs121912935
4 COL6A1 p.Ser116Asn VAR_058213 rs11553519
5 COL6A1 p.Gly272Asp VAR_058214 rs106479384
6 COL6A1 p.Pro274Leu VAR_058215 rs201093313
7 COL6A1 p.Gly275Arg VAR_058216
8 COL6A1 p.Gly290Arg VAR_058219 rs121912939
9 COL6A1 p.Gly341Val VAR_058221 rs121912935
10 COL6A1 p.Lys571Thr VAR_058222 rs751040647
11 COL6A2 p.Gly271Ser VAR_013589 rs121912940
12 COL6A2 p.Asp621Asn VAR_013590 rs267606750
13 COL6A2 p.Gly700Ser VAR_058231 rs794727418
14 COL6A2 p.Cys777Arg VAR_058233 rs267606747
15 COL6A2 p.Pro932Leu VAR_058241 rs117725825
16 COL6A3 p.Gly1679Glu VAR_001910 rs121434553
17 COL6A3 p.Lys1014Glu VAR_058248 rs114284669
18 COL6A3 p.Glu1386Lys VAR_058250 rs146092501
19 COL6A3 p.Asn1467Asp VAR_058252 rs138049094
20 COL6A3 p.Leu1726Arg VAR_058257 rs121434555
21 COL6A3 p.Val1985Met VAR_058258 rs200478135
22 COL6A3 p.Gly2047Asp VAR_058259
23 COL6A3 p.Gly2056Arg VAR_058260
24 COL6A3 p.Gly2080Asp VAR_058261 rs794727188
25 COL6A3 p.Ala2941Val VAR_058264 rs11903206

ClinVar genetic disease variations for Bethlem Myopathy 1:

6 (showing 1898, show less)
# Gene Variation Type Significance SNP ID Assembly Location
1 COL6A1 NM_001848.2(COL6A1): c.1577G> T (p.Gly526Val) single nucleotide variant Pathogenic rs121912934 GRCh37 Chromosome 21, 47418313: 47418313
2 COL6A1 NM_001848.2(COL6A1): c.1577G> T (p.Gly526Val) single nucleotide variant Pathogenic rs121912934 GRCh38 Chromosome 21, 45998399: 45998399
3 COL6A3 NM_004369.3(COL6A3): c.5036G> A (p.Gly1679Glu) single nucleotide variant Likely pathogenic rs121434553 GRCh37 Chromosome 2, 238275794: 238275794
4 COL6A3 NM_004369.3(COL6A3): c.5036G> A (p.Gly1679Glu) single nucleotide variant Likely pathogenic rs121434553 GRCh38 Chromosome 2, 237367151: 237367151
5 COL6A3 COL6A3, IVS15DS, GT-TC, +1 undetermined variant Pathogenic
6 COL6A3 NM_004369.3(COL6A3): c.5177T> G (p.Leu1726Arg) single nucleotide variant Pathogenic rs121434555 GRCh37 Chromosome 2, 238275653: 238275653
7 COL6A3 NM_004369.3(COL6A3): c.5177T> G (p.Leu1726Arg) single nucleotide variant Pathogenic rs121434555 GRCh38 Chromosome 2, 237367010: 237367010
8 COL6A2 NM_001849.3(COL6A2): c.811G> A (p.Gly271Ser) single nucleotide variant Pathogenic rs121912940 GRCh37 Chromosome 21, 47535795: 47535795
9 COL6A2 NM_001849.3(COL6A2): c.811G> A (p.Gly271Ser) single nucleotide variant Pathogenic rs121912940 GRCh38 Chromosome 21, 46115881: 46115881
10 COL6A2 NM_001849.3(COL6A2): c.1861G> A (p.Asp621Asn) single nucleotide variant Pathogenic rs267606750 GRCh37 Chromosome 21, 47545423: 47545423
11 COL6A2 NM_001849.3(COL6A2): c.1861G> A (p.Asp621Asn) single nucleotide variant Pathogenic rs267606750 GRCh38 Chromosome 21, 46125509: 46125509
12 COL6A2 NM_001849.3(COL6A2): c.1000-2A> G single nucleotide variant Pathogenic GRCh37 Chromosome 21, 47537312: 47537312
13 COL6A2 NM_001849.3(COL6A2): c.1000-2A> G single nucleotide variant Pathogenic GRCh38 Chromosome 21, 46117398: 46117398
14 COL6A2 NM_001849.3(COL6A2): c.2795C> T (p.Pro932Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs117725825 GRCh37 Chromosome 21, 47552201: 47552201
15 COL6A2 NM_001849.3(COL6A2): c.2795C> T (p.Pro932Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs117725825 GRCh38 Chromosome 21, 46132287: 46132287
16 COL6A2 NM_001849.3(COL6A2): c.2329T> C (p.Cys777Arg) single nucleotide variant Likely pathogenic rs267606747 GRCh37 Chromosome 21, 47546058: 47546058
17 COL6A2 NM_001849.3(COL6A2): c.2329T> C (p.Cys777Arg) single nucleotide variant Likely pathogenic rs267606747 GRCh38 Chromosome 21, 46126144: 46126144
18 COL6A2 NM_001849.3(COL6A2): c.1493G> A (p.Arg498His) single nucleotide variant Uncertain significance rs267606749 GRCh37 Chromosome 21, 47541504: 47541504
19 COL6A2 NM_001849.3(COL6A2): c.1493G> A (p.Arg498His) single nucleotide variant Uncertain significance rs267606749 GRCh38 Chromosome 21, 46121590: 46121590
20 COL6A1 NM_001848.2(COL6A1): c.931-1G> A single nucleotide variant Pathogenic GRCh37 Chromosome 21, 47410171: 47410171
21 COL6A1 NM_001848.2(COL6A1): c.931-1G> A single nucleotide variant Pathogenic GRCh38 Chromosome 21, 45990257: 45990257
22 COL6A1 NM_001848.2(COL6A1): c.1056+2T> C single nucleotide variant Pathogenic rs797044456 GRCh38 Chromosome 21, 45990828: 45990828
23 COL6A1 NM_001848.2(COL6A1): c.1056+2T> C single nucleotide variant Pathogenic rs797044456 GRCh37 Chromosome 21, 47410742: 47410742
24 COL6A1 NM_001848.2(COL6A1): c.1022G> A (p.Gly341Asp) single nucleotide variant Pathogenic rs121912935 GRCh37 Chromosome 21, 47410706: 47410706
25 COL6A1 NM_001848.2(COL6A1): c.1022G> A (p.Gly341Asp) single nucleotide variant Pathogenic rs121912935 GRCh38 Chromosome 21, 45990792: 45990792
26 COL6A1 NM_001848.2(COL6A1): c.362A> G (p.Lys121Arg) single nucleotide variant Pathogenic rs121912936 GRCh37 Chromosome 21, 47404317: 47404317
27 COL6A1 NM_001848.2(COL6A1): c.362A> G (p.Lys121Arg) single nucleotide variant Pathogenic rs121912936 GRCh38 Chromosome 21, 45984403: 45984403
28 COL6A1 NM_001848.2(COL6A1): c.1003_1056del54 single nucleotide variant Pathogenic rs398123631 GRCh37 Chromosome 21, 47410741: 47410741
29 COL6A1 NM_001848.2(COL6A1): c.1003_1056del54 single nucleotide variant Pathogenic rs398123631 GRCh38 Chromosome 21, 45990827: 45990827
30 COL6A1 NM_001848.2(COL6A1): c.428+1G> A single nucleotide variant Pathogenic GRCh37 Chromosome 21, 47404384: 47404384
31 COL6A1 NM_001848.2(COL6A1): c.428+1G> A single nucleotide variant Pathogenic GRCh38 Chromosome 21, 45984470: 45984470
32 COL6A1 NM_001848.2(COL6A1): c.850G> A (p.Gly284Arg) single nucleotide variant Pathogenic rs121912938 GRCh37 Chromosome 21, 47409043: 47409043
33 COL6A1 NM_001848.2(COL6A1): c.850G> A (p.Gly284Arg) single nucleotide variant Pathogenic rs121912938 GRCh38 Chromosome 21, 45989129: 45989129
34 COL6A2 NM_001849.3(COL6A2): c.1870G> A (p.Glu624Lys) single nucleotide variant Conflicting interpretations of pathogenicity rs387906607 GRCh37 Chromosome 21, 47545432: 47545432
35 COL6A2 NM_001849.3(COL6A2): c.1870G> A (p.Glu624Lys) single nucleotide variant Conflicting interpretations of pathogenicity rs387906607 GRCh38 Chromosome 21, 46125518: 46125518
36 COL6A2 NM_001849.3(COL6A2): c.1096C> T (p.Arg366Ter) single nucleotide variant Pathogenic rs387906609 GRCh37 Chromosome 21, 47537830: 47537830
37 COL6A2 NM_001849.3(COL6A2): c.1096C> T (p.Arg366Ter) single nucleotide variant Pathogenic rs387906609 GRCh38 Chromosome 21, 46117916: 46117916
38 COL6A2 NM_001849.3(COL6A2): c.2611G> A (p.Asp871Asn) single nucleotide variant Pathogenic rs387906610 GRCh37 Chromosome 21, 47552017: 47552017
39 COL6A2 NM_001849.3(COL6A2): c.2611G> A (p.Asp871Asn) single nucleotide variant Pathogenic rs387906610 GRCh38 Chromosome 21, 46132103: 46132103
40 COL6A1 NM_001848.2(COL6A1): c.350T> C (p.Val117Ala) single nucleotide variant Conflicting interpretations of pathogenicity rs138899581 GRCh37 Chromosome 21, 47404305: 47404305
41 COL6A1 NM_001848.2(COL6A1): c.350T> C (p.Val117Ala) single nucleotide variant Conflicting interpretations of pathogenicity rs138899581 GRCh38 Chromosome 21, 45984391: 45984391
42 COL6A3 NM_004369.3(COL6A3): c.6193G> A (p.Gly2065Ser) single nucleotide variant Likely pathogenic rs397515332 GRCh37 Chromosome 2, 238269781: 238269781
43 COL6A3 NM_004369.3(COL6A3): c.6193G> A (p.Gly2065Ser) single nucleotide variant Likely pathogenic rs397515332 GRCh38 Chromosome 2, 237361138: 237361138
44 COL6A2 NM_001849.3(COL6A2): c.803G> A (p.Gly268Asp) single nucleotide variant Likely pathogenic rs397515333 GRCh37 Chromosome 21, 47535787: 47535787
45 COL6A2 NM_001849.3(COL6A2): c.803G> A (p.Gly268Asp) single nucleotide variant Likely pathogenic rs397515333 GRCh38 Chromosome 21, 46115873: 46115873
46 COL6A1 NM_001848.2(COL6A1): c.1056C> T (p.Asp352=) single nucleotide variant Benign/Likely benign rs116343553 GRCh37 Chromosome 21, 47410740: 47410740
47 COL6A1 NM_001848.2(COL6A1): c.1056C> T (p.Asp352=) single nucleotide variant Benign/Likely benign rs116343553 GRCh38 Chromosome 21, 45990826: 45990826
48 COL6A1 NM_001848.2(COL6A1): c.105C> G (p.Pro35=) single nucleotide variant Likely benign rs145579577 GRCh37 Chromosome 21, 47402555: 47402555
49 COL6A1 NM_001848.2(COL6A1): c.105C> G (p.Pro35=) single nucleotide variant Likely benign rs145579577 GRCh38 Chromosome 21, 45982641: 45982641
50 COL6A1 NM_001848.2(COL6A1): c.1095T> C (p.Gly365=) single nucleotide variant Benign rs1980982 GRCh37 Chromosome 21, 47410931: 47410931
51 COL6A1 NM_001848.2(COL6A1): c.1095T> C (p.Gly365=) single nucleotide variant Benign rs1980982 GRCh38 Chromosome 21, 45991017: 45991017
52 COL6A1 NM_001848.2(COL6A1): c.1273-8C> T single nucleotide variant Benign rs7280215 GRCh37 Chromosome 21, 47412654: 47412654
53 COL6A1 NM_001848.2(COL6A1): c.1273-8C> T single nucleotide variant Benign rs7280215 GRCh38 Chromosome 21, 45992740: 45992740
54 COL6A1 NM_001848.2(COL6A1): c.1314G> A (p.Thr438=) single nucleotide variant Benign rs7279254 GRCh37 Chromosome 21, 47412703: 47412703
55 COL6A1 NM_001848.2(COL6A1): c.1314G> A (p.Thr438=) single nucleotide variant Benign rs7279254 GRCh38 Chromosome 21, 45992789: 45992789
56 COL6A1 NM_001848.2(COL6A1): c.1316G> A (p.Arg439Gln) single nucleotide variant Benign/Likely benign rs35059000 GRCh37 Chromosome 21, 47412705: 47412705
57 COL6A1 NM_001848.2(COL6A1): c.1316G> A (p.Arg439Gln) single nucleotide variant Benign/Likely benign rs35059000 GRCh38 Chromosome 21, 45992791: 45992791
58 COL6A1 NM_001848.2(COL6A1): c.1398+10G> A single nucleotide variant Conflicting interpretations of pathogenicity rs143438559 GRCh37 Chromosome 21, 47414153: 47414153
59 COL6A1 NM_001848.2(COL6A1): c.1398+10G> A single nucleotide variant Conflicting interpretations of pathogenicity rs143438559 GRCh38 Chromosome 21, 45994239: 45994239
60 COL6A1 NM_001848.2(COL6A1): c.1443G> A (p.Glu481=) single nucleotide variant Benign/Likely benign rs80244281 GRCh37 Chromosome 21, 47417379: 47417379
61 COL6A1 NM_001848.2(COL6A1): c.1443G> A (p.Glu481=) single nucleotide variant Benign/Likely benign rs80244281 GRCh38 Chromosome 21, 45997465: 45997465
62 COL6A1 NM_001848.2(COL6A1): c.1518T> C (p.Gly506=) single nucleotide variant Benign/Likely benign rs35134265 GRCh37 Chromosome 21, 47417670: 47417670
63 COL6A1 NM_001848.2(COL6A1): c.1518T> C (p.Gly506=) single nucleotide variant Benign/Likely benign rs35134265 GRCh38 Chromosome 21, 45997756: 45997756
64 COL6A1 NM_001848.2(COL6A1): c.1612-10G> A single nucleotide variant Benign/Likely benign rs141892165 GRCh37 Chromosome 21, 47418801: 47418801
65 COL6A1 NM_001848.2(COL6A1): c.1612-10G> A single nucleotide variant Benign/Likely benign rs141892165 GRCh38 Chromosome 21, 45998887: 45998887
66 COL6A1 NM_001848.2(COL6A1): c.1612-6C> T single nucleotide variant Benign/Likely benign rs143812383 GRCh37 Chromosome 21, 47418805: 47418805
67 COL6A1 NM_001848.2(COL6A1): c.1612-6C> T single nucleotide variant Benign/Likely benign rs143812383 GRCh38 Chromosome 21, 45998891: 45998891
68 COL6A1 NM_001848.2(COL6A1): c.1773G> A (p.Pro591=) single nucleotide variant Benign rs74852641 GRCh37 Chromosome 21, 47419603: 47419603
69 COL6A1 NM_001848.2(COL6A1): c.1773G> A (p.Pro591=) single nucleotide variant Benign rs74852641 GRCh38 Chromosome 21, 45999689: 45999689
70 COL6A1 NM_001848.2(COL6A1): c.1814-6C> G single nucleotide variant Benign/Likely benign rs182804464 GRCh37 Chromosome 21, 47420667: 47420667
71 COL6A1 NM_001848.2(COL6A1): c.1814-6C> G single nucleotide variant Benign/Likely benign rs182804464 GRCh38 Chromosome 21, 46000753: 46000753
72 COL6A1 NM_001848.2(COL6A1): c.1823-8G> A single nucleotide variant Benign/Likely benign rs184666690 GRCh37 Chromosome 21, 47421159: 47421159
73 COL6A1 NM_001848.2(COL6A1): c.1823-8G> A single nucleotide variant Benign/Likely benign rs184666690 GRCh38 Chromosome 21, 46001245: 46001245
74 COL6A1 NM_001848.2(COL6A1): c.1833C> T (p.Cys611=) single nucleotide variant Benign/Likely benign rs142554239 GRCh37 Chromosome 21, 47421177: 47421177
75 COL6A1 NM_001848.2(COL6A1): c.1833C> T (p.Cys611=) single nucleotide variant Benign/Likely benign rs142554239 GRCh38 Chromosome 21, 46001263: 46001263
76 COL6A1 NM_001848.2(COL6A1): c.1957-5C> T single nucleotide variant Benign/Likely benign rs78224483 GRCh37 Chromosome 21, 47421870: 47421870
77 COL6A1 NM_001848.2(COL6A1): c.1957-5C> T single nucleotide variant Benign/Likely benign rs78224483 GRCh38 Chromosome 21, 46001956: 46001956
78 COL6A1 NM_001848.2(COL6A1): c.2042T> C (p.Ile681Thr) single nucleotide variant Benign/Likely benign rs138884734 GRCh37 Chromosome 21, 47421960: 47421960
79 COL6A1 NM_001848.2(COL6A1): c.2042T> C (p.Ile681Thr) single nucleotide variant Benign/Likely benign rs138884734 GRCh38 Chromosome 21, 46002046: 46002046
80 COL6A1 NM_001848.2(COL6A1): c.2061C> A (p.Leu687=) single nucleotide variant Benign/Likely benign rs8132678 GRCh37 Chromosome 21, 47421979: 47421979
81 COL6A1 NM_001848.2(COL6A1): c.2061C> A (p.Leu687=) single nucleotide variant Benign/Likely benign rs8132678 GRCh38 Chromosome 21, 46002065: 46002065
82 COL6A1 NM_001848.2(COL6A1): c.2067-10T> C single nucleotide variant Benign/Likely benign rs200727020 GRCh37 Chromosome 21, 47422122: 47422122
83 COL6A1 NM_001848.2(COL6A1): c.2067-10T> C single nucleotide variant Benign/Likely benign rs200727020 GRCh38 Chromosome 21, 46002208: 46002208
84 COL6A1 NM_001848.2(COL6A1): c.2130G> A (p.Thr710=) single nucleotide variant Benign/Likely benign rs147219060 GRCh37 Chromosome 21, 47422195: 47422195
85 COL6A1 NM_001848.2(COL6A1): c.2130G> A (p.Thr710=) single nucleotide variant Benign/Likely benign rs147219060 GRCh38 Chromosome 21, 46002281: 46002281
86 COL6A1 NM_001848.2(COL6A1): c.2348G> A (p.Arg783Gln) single nucleotide variant Likely benign rs200261890 GRCh37 Chromosome 21, 47422538: 47422538
87 COL6A1 NM_001848.2(COL6A1): c.2348G> A (p.Arg783Gln) single nucleotide variant Likely benign rs200261890 GRCh38 Chromosome 21, 46002624: 46002624
88 COL6A1 NM_001848.2(COL6A1): c.2424G> T (p.Gln808His) single nucleotide variant Benign/Likely benign rs140547835 GRCh37 Chromosome 21, 47422614: 47422614
89 COL6A1 NM_001848.2(COL6A1): c.2424G> T (p.Gln808His) single nucleotide variant Benign/Likely benign rs140547835 GRCh38 Chromosome 21, 46002700: 46002700
90 COL6A1 NM_001848.2(COL6A1): c.2441A> G (p.Lys814Arg) single nucleotide variant Benign/Likely benign rs11553518 GRCh37 Chromosome 21, 47423040: 47423040
91 COL6A1 NM_001848.2(COL6A1): c.2441A> G (p.Lys814Arg) single nucleotide variant Benign/Likely benign rs11553518 GRCh38 Chromosome 21, 46003126: 46003126
92 COL6A1 NM_001848.2(COL6A1): c.2517C> T (p.Ser839=) single nucleotide variant Benign/Likely benign rs141463437 GRCh37 Chromosome 21, 47423357: 47423357
93 COL6A1 NM_001848.2(COL6A1): c.2517C> T (p.Ser839=) single nucleotide variant Benign/Likely benign rs141463437 GRCh38 Chromosome 21, 46003443: 46003443
94 COL6A1 NM_001848.2(COL6A1): c.2549G> A (p.Arg850His) single nucleotide variant Benign rs1053312 GRCh37 Chromosome 21, 47423389: 47423389
95 COL6A1 NM_001848.2(COL6A1): c.2549G> A (p.Arg850His) single nucleotide variant Benign rs1053312 GRCh38 Chromosome 21, 46003475: 46003475
96 COL6A1 NM_001848.2(COL6A1): c.2614C> T (p.Arg872Trp) single nucleotide variant Uncertain significance rs368561027 GRCh37 Chromosome 21, 47423454: 47423454
97 COL6A1 NM_001848.2(COL6A1): c.2614C> T (p.Arg872Trp) single nucleotide variant Uncertain significance rs368561027 GRCh38 Chromosome 21, 46003540: 46003540
98 COL6A1 NM_001848.2(COL6A1): c.2642C> T (p.Thr881Met) single nucleotide variant Conflicting interpretations of pathogenicity rs150432347 GRCh37 Chromosome 21, 47423482: 47423482
99 COL6A1 NM_001848.2(COL6A1): c.2642C> T (p.Thr881Met) single nucleotide variant Conflicting interpretations of pathogenicity rs150432347 GRCh38 Chromosome 21, 46003568: 46003568
100 COL6A1 NM_001848.2(COL6A1): c.2667G> A (p.Ala889=) single nucleotide variant Benign rs1053315 GRCh37 Chromosome 21, 47423507: 47423507
101 COL6A1 NM_001848.2(COL6A1): c.2667G> A (p.Ala889=) single nucleotide variant Benign rs1053315 GRCh38 Chromosome 21, 46003593: 46003593
102 COL6A1 NM_001848.2(COL6A1): c.2669C> T (p.Ser890Leu) single nucleotide variant Benign rs13051496 GRCh37 Chromosome 21, 47423509: 47423509
103 COL6A1 NM_001848.2(COL6A1): c.2669C> T (p.Ser890Leu) single nucleotide variant Benign rs13051496 GRCh38 Chromosome 21, 46003595: 46003595
104 COL6A1 NM_001848.2(COL6A1): c.2736C> T (p.Asp912=) single nucleotide variant Benign/Likely benign rs13879 GRCh37 Chromosome 21, 47423576: 47423576
105 COL6A1 NM_001848.2(COL6A1): c.2736C> T (p.Asp912=) single nucleotide variant Benign/Likely benign rs13879 GRCh38 Chromosome 21, 46003662: 46003662
106 COL6A1 NM_001848.2(COL6A1): c.2742C> T (p.Thr914=) single nucleotide variant Benign/Likely benign rs115163637 GRCh37 Chromosome 21, 47423582: 47423582
107 COL6A1 NM_001848.2(COL6A1): c.2742C> T (p.Thr914=) single nucleotide variant Benign/Likely benign rs115163637 GRCh38 Chromosome 21, 46003668: 46003668
108 COL6A1 NM_001848.2(COL6A1): c.2781C> T (p.Tyr927=) single nucleotide variant Benign rs61735853 GRCh37 Chromosome 21, 47423621: 47423621
109 COL6A1 NM_001848.2(COL6A1): c.2781C> T (p.Tyr927=) single nucleotide variant Benign rs61735853 GRCh38 Chromosome 21, 46003707: 46003707
110 COL6A1 NM_001848.2(COL6A1): c.2783G> A (p.Arg928His) single nucleotide variant Benign rs144671871 GRCh37 Chromosome 21, 47423623: 47423623
111 COL6A1 NM_001848.2(COL6A1): c.2783G> A (p.Arg928His) single nucleotide variant Benign rs144671871 GRCh38 Chromosome 21, 46003709: 46003709
112 COL6A1 NM_001848.2(COL6A1): c.2865C> T (p.Ile955=) single nucleotide variant Benign/Likely benign rs138062080 GRCh37 Chromosome 21, 47423705: 47423705
113 COL6A1 NM_001848.2(COL6A1): c.2865C> T (p.Ile955=) single nucleotide variant Benign/Likely benign rs138062080 GRCh38 Chromosome 21, 46003791: 46003791
114 COL6A1 NM_001848.2(COL6A1): c.347G> A (p.Ser116Asn) single nucleotide variant Benign/Likely benign rs11553519 GRCh37 Chromosome 21, 47404302: 47404302
115 COL6A1 NM_001848.2(COL6A1): c.347G> A (p.Ser116Asn) single nucleotide variant Benign/Likely benign rs11553519 GRCh38 Chromosome 21, 45984388: 45984388
116 COL6A1 NM_001848.2(COL6A1): c.588+8C> G single nucleotide variant Conflicting interpretations of pathogenicity rs398123638 GRCh37 Chromosome 21, 47406607: 47406607
117 COL6A1 NM_001848.2(COL6A1): c.588+8C> G single nucleotide variant Conflicting interpretations of pathogenicity rs398123638 GRCh38 Chromosome 21, 45986693: 45986693
118 COL6A1 NM_001848.2(COL6A1): c.645G> A (p.Ala215=) single nucleotide variant Benign/Likely benign rs115292913 GRCh37 Chromosome 21, 47406914: 47406914
119 COL6A1 NM_001848.2(COL6A1): c.645G> A (p.Ala215=) single nucleotide variant Benign/Likely benign rs115292913 GRCh38 Chromosome 21, 45987000: 45987000
120 COL6A1 NM_001848.2(COL6A1): c.805-2A> G single nucleotide variant Pathogenic rs398123639 GRCh37 Chromosome 21, 47408996: 47408996
121 COL6A1 NM_001848.2(COL6A1): c.805-2A> G single nucleotide variant Pathogenic rs398123639 GRCh38 Chromosome 21, 45989082: 45989082
122 COL6A1 NM_001848.2(COL6A1): c.868G> A (p.Gly290Arg) single nucleotide variant Pathogenic rs121912939 GRCh37 Chromosome 21, 47409531: 47409531
123 COL6A1 NM_001848.2(COL6A1): c.868G> A (p.Gly290Arg) single nucleotide variant Pathogenic rs121912939 GRCh38 Chromosome 21, 45989617: 45989617
124 COL6A1 NM_001848.2(COL6A1): c.877G> A (p.Gly293Arg) single nucleotide variant Pathogenic/Likely pathogenic rs398123643 GRCh37 Chromosome 21, 47409540: 47409540
125 COL6A1 NM_001848.2(COL6A1): c.877G> A (p.Gly293Arg) single nucleotide variant Pathogenic/Likely pathogenic rs398123643 GRCh38 Chromosome 21, 45989626: 45989626
126 COL6A1 NM_001848.2(COL6A1): c.896G> A (p.Gly299Glu) single nucleotide variant Likely pathogenic rs398123644 GRCh37 Chromosome 21, 47409559: 47409559
127 COL6A1 NM_001848.2(COL6A1): c.896G> A (p.Gly299Glu) single nucleotide variant Likely pathogenic rs398123644 GRCh38 Chromosome 21, 45989645: 45989645
128 COL6A2 NM_001849.3(COL6A2): c.1161C> T (p.Ile387=) single nucleotide variant Benign/Likely benign rs140027285 GRCh37 Chromosome 21, 47538572: 47538572
129 COL6A2 NM_001849.3(COL6A2): c.1161C> T (p.Ile387=) single nucleotide variant Benign/Likely benign rs140027285 GRCh38 Chromosome 21, 46118658: 46118658
130 COL6A2 NM_001849.3(COL6A2): c.1251C> T (p.Arg417=) single nucleotide variant Benign/Likely benign rs61735827 GRCh37 Chromosome 21, 47539015: 47539015
131 COL6A2 NM_001849.3(COL6A2): c.1251C> T (p.Arg417=) single nucleotide variant Benign/Likely benign rs61735827 GRCh38 Chromosome 21, 46119101: 46119101
132 COL6A2 NM_001849.3(COL6A2): c.1461delA (p.Ser488Leufs) deletion Pathogenic/Likely pathogenic rs398123645 GRCh37 Chromosome 21, 47541472: 47541472
133 COL6A2 NM_001849.3(COL6A2): c.1461delA (p.Ser488Leufs) deletion Pathogenic/Likely pathogenic rs398123645 GRCh38 Chromosome 21, 46121558: 46121558
134 COL6A2 NM_001849.3(COL6A2): c.1522-1G> A single nucleotide variant Pathogenic rs398123646 GRCh37 Chromosome 21, 47542021: 47542021
135 COL6A2 NM_001849.3(COL6A2): c.1522-1G> A single nucleotide variant Pathogenic rs398123646 GRCh38 Chromosome 21, 46122107: 46122107
136 COL6A2 NM_001849.3(COL6A2): c.1552C> T (p.Pro518Ser) single nucleotide variant Benign/Likely benign rs141166141 GRCh37 Chromosome 21, 47542052: 47542052
137 COL6A2 NM_001849.3(COL6A2): c.1552C> T (p.Pro518Ser) single nucleotide variant Benign/Likely benign rs141166141 GRCh38 Chromosome 21, 46122138: 46122138
138 COL6A2 NM_001849.3(COL6A2): c.1769C> T (p.Thr590Met) single nucleotide variant Conflicting interpretations of pathogenicity rs142709940 GRCh37 Chromosome 21, 47544833: 47544833
139 COL6A2 NM_001849.3(COL6A2): c.1769C> T (p.Thr590Met) single nucleotide variant Conflicting interpretations of pathogenicity rs142709940 GRCh38 Chromosome 21, 46124919: 46124919
140 COL6A2 NM_001849.3(COL6A2): c.1970-3C> A single nucleotide variant Conflicting interpretations of pathogenicity rs201879417 GRCh37 Chromosome 21, 47545696: 47545696
141 COL6A2 NM_001849.3(COL6A2): c.1970-3C> A single nucleotide variant Conflicting interpretations of pathogenicity rs201879417 GRCh38 Chromosome 21, 46125782: 46125782
142 COL6A2 NM_001849.3(COL6A2): c.2136C> T (p.Asp712=) single nucleotide variant Benign/Likely benign rs114554195 GRCh37 Chromosome 21, 47545865: 47545865
143 COL6A2 NM_001849.3(COL6A2): c.2136C> T (p.Asp712=) single nucleotide variant Benign/Likely benign rs114554195 GRCh38 Chromosome 21, 46125951: 46125951
144 COL6A2 NM_001849.3(COL6A2): c.2160C> G (p.Arg720=) single nucleotide variant Benign/Likely benign rs61735829 GRCh37 Chromosome 21, 47545889: 47545889
145 COL6A2 NM_001849.3(COL6A2): c.2160C> G (p.Arg720=) single nucleotide variant Benign/Likely benign rs61735829 GRCh38 Chromosome 21, 46125975: 46125975
146 COL6A2 NM_001849.3(COL6A2): c.2163G> A (p.Gln721=) single nucleotide variant Benign rs16978875 GRCh37 Chromosome 21, 47545892: 47545892
147 COL6A2 NM_001849.3(COL6A2): c.2163G> A (p.Gln721=) single nucleotide variant Benign rs16978875 GRCh38 Chromosome 21, 46125978: 46125978
148 COL6A2 NM_001849.3(COL6A2): c.2351G> A (p.Arg784His) single nucleotide variant Benign/Likely benign rs75120695 GRCh37 Chromosome 21, 47546080: 47546080
149 COL6A2 NM_001849.3(COL6A2): c.2351G> A (p.Arg784His) single nucleotide variant Benign/Likely benign rs75120695 GRCh38 Chromosome 21, 46126166: 46126166
150 COL6A2 NM_001849.3(COL6A2): c.2484G> A (p.Thr828=) single nucleotide variant Conflicting interpretations of pathogenicity rs147199350 GRCh37 Chromosome 21, 47551890: 47551890
151 COL6A2 NM_001849.3(COL6A2): c.2484G> A (p.Thr828=) single nucleotide variant Conflicting interpretations of pathogenicity rs147199350 GRCh38 Chromosome 21, 46131976: 46131976
152 COL6A2 NM_001849.3(COL6A2): c.2580G> A (p.Ala860=) single nucleotide variant Conflicting interpretations of pathogenicity rs146420786 GRCh37 Chromosome 21, 47551986: 47551986
153 COL6A2 NM_001849.3(COL6A2): c.2580G> A (p.Ala860=) single nucleotide variant Conflicting interpretations of pathogenicity rs146420786 GRCh38 Chromosome 21, 46132072: 46132072
154 COL6A2 NM_001849.3(COL6A2): c.2610C> T (p.Asp870=) single nucleotide variant Benign/Likely benign rs116817879 GRCh37 Chromosome 21, 47552016: 47552016
155 COL6A2 NM_001849.3(COL6A2): c.2610C> T (p.Asp870=) single nucleotide variant Benign/Likely benign rs116817879 GRCh38 Chromosome 21, 46132102: 46132102
156 COL6A2 NM_001849.3(COL6A2): c.2769C> T (p.His923=) single nucleotide variant Conflicting interpretations of pathogenicity rs140419176 GRCh37 Chromosome 21, 47552175: 47552175
157 COL6A2 NM_001849.3(COL6A2): c.2769C> T (p.His923=) single nucleotide variant Conflicting interpretations of pathogenicity rs140419176 GRCh38 Chromosome 21, 46132261: 46132261
158 COL6A2 NM_001849.3(COL6A2): c.2886C> T (p.His962=) single nucleotide variant Benign rs115970356 GRCh37 Chromosome 21, 47552292: 47552292
159 COL6A2 NM_001849.3(COL6A2): c.2886C> T (p.His962=) single nucleotide variant Benign rs115970356 GRCh38 Chromosome 21, 46132378: 46132378
160 COL6A2 NM_001849.3(COL6A2): c.2983G> A (p.Ala995Thr) single nucleotide variant Benign/Likely benign rs35139588 GRCh37 Chromosome 21, 47552389: 47552389
161 COL6A2 NM_001849.3(COL6A2): c.2983G> A (p.Ala995Thr) single nucleotide variant Benign/Likely benign rs35139588 GRCh38 Chromosome 21, 46132475: 46132475
162 COL6A2; FTCD NM_001849.3(COL6A2): c.3043A> C (p.Ile1015Leu) single nucleotide variant Benign/Likely benign rs11910483 GRCh37 Chromosome 21, 47552449: 47552449
163 COL6A2; FTCD NM_001849.3(COL6A2): c.3043A> C (p.Ile1015Leu) single nucleotide variant Benign/Likely benign rs11910483 GRCh38 Chromosome 21, 46132535: 46132535
164 COL6A2 NM_001849.3(COL6A2): c.316G> A (p.Glu106Lys) single nucleotide variant Benign/Likely benign rs141703710 GRCh37 Chromosome 21, 47532093: 47532093
165 COL6A2 NM_001849.3(COL6A2): c.316G> A (p.Glu106Lys) single nucleotide variant Benign/Likely benign rs141703710 GRCh38 Chromosome 21, 46112179: 46112179
166 COL6A2 NM_001849.3(COL6A2): c.499G> A (p.Gly167Ser) single nucleotide variant Benign/Likely benign rs115957676 GRCh37 Chromosome 21, 47532276: 47532276
167 COL6A2 NM_001849.3(COL6A2): c.499G> A (p.Gly167Ser) single nucleotide variant Benign/Likely benign rs115957676 GRCh38 Chromosome 21, 46112362: 46112362
168 COL6A2 NM_001849.3(COL6A2): c.679G> A (p.Asp227Asn) single nucleotide variant Benign/Likely benign rs35881321 GRCh37 Chromosome 21, 47532456: 47532456
169 COL6A2 NM_001849.3(COL6A2): c.679G> A (p.Asp227Asn) single nucleotide variant Benign/Likely benign rs35881321 GRCh38 Chromosome 21, 46112542: 46112542
170 COL6A2 NM_001849.3(COL6A2): c.714+9C> T single nucleotide variant Benign/Likely benign rs78822624 GRCh37 Chromosome 21, 47532500: 47532500
171 COL6A2 NM_001849.3(COL6A2): c.714+9C> T single nucleotide variant Benign/Likely benign rs78822624 GRCh38 Chromosome 21, 46112586: 46112586
172 COL6A2 NM_001849.3(COL6A2): c.759A> G (p.Glu253=) single nucleotide variant Conflicting interpretations of pathogenicity rs140404854 GRCh37 Chromosome 21, 47533945: 47533945
173 COL6A2 NM_001849.3(COL6A2): c.759A> G (p.Glu253=) single nucleotide variant Conflicting interpretations of pathogenicity rs140404854 GRCh38 Chromosome 21, 46114031: 46114031
174 COL6A2 NM_001849.3(COL6A2): c.832G> A (p.Glu278Lys) single nucleotide variant Benign/Likely benign rs61735835 GRCh37 Chromosome 21, 47535816: 47535816
175 COL6A2 NM_001849.3(COL6A2): c.832G> A (p.Glu278Lys) single nucleotide variant Benign/Likely benign rs61735835 GRCh38 Chromosome 21, 46115902: 46115902
176 COL6A2 NM_001849.3(COL6A2): c.855+2T> G single nucleotide variant Pathogenic rs113525292 GRCh37 Chromosome 21, 47535841: 47535841
177 COL6A2 NM_001849.3(COL6A2): c.855+2T> G single nucleotide variant Pathogenic rs113525292 GRCh38 Chromosome 21, 46115927: 46115927
178 COL6A3 NM_004369.3(COL6A3): c.1024G> A (p.Val342Met) single nucleotide variant Likely benign rs111402193 GRCh37 Chromosome 2, 238296513: 238296513
179 COL6A3 NM_004369.3(COL6A3): c.1024G> A (p.Val342Met) single nucleotide variant Likely benign rs111402193 GRCh38 Chromosome 2, 237387870: 237387870
180 COL6A3 NM_004369.3(COL6A3): c.1182C> T (p.Thr394=) single nucleotide variant Benign/Likely benign rs114750216 GRCh37 Chromosome 2, 238296355: 238296355
181 COL6A3 NM_004369.3(COL6A3): c.1182C> T (p.Thr394=) single nucleotide variant Benign/Likely benign rs114750216 GRCh38 Chromosome 2, 237387712: 237387712
182 COL6A3 NM_004369.3(COL6A3): c.1231C> G (p.Leu411Val) single nucleotide variant Benign/Likely benign rs113716915 GRCh37 Chromosome 2, 238296306: 238296306
183 COL6A3 NM_004369.3(COL6A3): c.1231C> G (p.Leu411Val) single nucleotide variant Benign/Likely benign rs113716915 GRCh38 Chromosome 2, 237387663: 237387663
184 COL6A3 NM_004369.3(COL6A3): c.1264G> A (p.Val422Met) single nucleotide variant Benign/Likely benign rs114511558 GRCh37 Chromosome 2, 238296273: 238296273
185 COL6A3 NM_004369.3(COL6A3): c.1264G> A (p.Val422Met) single nucleotide variant Benign/Likely benign rs114511558 GRCh38 Chromosome 2, 237387630: 237387630
186 COL6A3 NM_004369.3(COL6A3): c.1389C> T (p.Ala463=) single nucleotide variant Benign/Likely benign rs112896869 GRCh37 Chromosome 2, 238290066: 238290066
187 COL6A3 NM_004369.3(COL6A3): c.1389C> T (p.Ala463=) single nucleotide variant Benign/Likely benign rs112896869 GRCh38 Chromosome 2, 237381423: 237381423
188 COL6A3 NM_004369.3(COL6A3): c.1471G> C (p.Asp491His) single nucleotide variant Benign/Likely benign rs112010940 GRCh37 Chromosome 2, 238289984: 238289984
189 COL6A3 NM_004369.3(COL6A3): c.1471G> C (p.Asp491His) single nucleotide variant Benign/Likely benign rs112010940 GRCh38 Chromosome 2, 237381341: 237381341
190 COL6A3 NM_004369.3(COL6A3): c.1475C> G (p.Thr492Ser) single nucleotide variant Benign/Likely benign rs113897824 GRCh37 Chromosome 2, 238289980: 238289980
191 COL6A3 NM_004369.3(COL6A3): c.1475C> G (p.Thr492Ser) single nucleotide variant Benign/Likely benign rs113897824 GRCh38 Chromosome 2, 237381337: 237381337
192 COL6A3 NM_004369.3(COL6A3): c.1638C> T (p.Ala546=) single nucleotide variant Benign/Likely benign rs112040282 GRCh37 Chromosome 2, 238289817: 238289817
193 COL6A3 NM_004369.3(COL6A3): c.1638C> T (p.Ala546=) single nucleotide variant Benign/Likely benign rs112040282 GRCh38 Chromosome 2, 237381174: 237381174
194 COL6A3 NM_004369.3(COL6A3): c.1688A> G (p.Asp563Gly) single nucleotide variant Conflicting interpretations of pathogenicity rs112913396 GRCh37 Chromosome 2, 238289767: 238289767
195 COL6A3 NM_004369.3(COL6A3): c.1688A> G (p.Asp563Gly) single nucleotide variant Conflicting interpretations of pathogenicity rs112913396 GRCh38 Chromosome 2, 237381124: 237381124
196 COL6A3 NM_004369.3(COL6A3): c.175C> T (p.Arg59Ter) single nucleotide variant Pathogenic/Likely pathogenic rs398124119 GRCh37 Chromosome 2, 238303764: 238303764
197 COL6A3 NM_004369.3(COL6A3): c.175C> T (p.Arg59Ter) single nucleotide variant Pathogenic/Likely pathogenic rs398124119 GRCh38 Chromosome 2, 237395121: 237395121
198 COL6A3 NM_004369.3(COL6A3): c.1786G> T (p.Ala596Ser) single nucleotide variant Benign/Likely benign rs34934127 GRCh37 Chromosome 2, 238289669: 238289669
199 COL6A3 NM_004369.3(COL6A3): c.1786G> T (p.Ala596Ser) single nucleotide variant Benign/Likely benign rs34934127 GRCh38 Chromosome 2, 237381026: 237381026
200 COL6A3 NM_004369.3(COL6A3): c.1914G> A (p.Arg638=) single nucleotide variant Benign rs34904623 GRCh37 Chromosome 2, 238287862: 238287862
201 COL6A3 NM_004369.3(COL6A3): c.1914G> A (p.Arg638=) single nucleotide variant Benign rs34904623 GRCh38 Chromosome 2, 237379219: 237379219
202 COL6A3 NM_004369.3(COL6A3): c.1976G> A (p.Arg659His) single nucleotide variant Benign/Likely benign rs36092870 GRCh37 Chromosome 2, 238287800: 238287800
203 COL6A3 NM_004369.3(COL6A3): c.1976G> A (p.Arg659His) single nucleotide variant Benign/Likely benign rs36092870 GRCh38 Chromosome 2, 237379157: 237379157
204 COL6A3 NM_004369.3(COL6A3): c.2419G> A (p.Ala807Thr) single nucleotide variant Benign rs113155945 GRCh37 Chromosome 2, 238287357: 238287357
205 COL6A3 NM_004369.3(COL6A3): c.2419G> A (p.Ala807Thr) single nucleotide variant Benign rs113155945 GRCh38 Chromosome 2, 237378714: 237378714
206 COL6A3 NM_004369.3(COL6A3): c.2488G> T (p.Ala830Ser) single nucleotide variant Benign rs77181645 GRCh37 Chromosome 2, 238287288: 238287288
207 COL6A3 NM_004369.3(COL6A3): c.2488G> T (p.Ala830Ser) single nucleotide variant Benign rs77181645 GRCh38 Chromosome 2, 237378645: 237378645
208 COL6A3 NM_004369.3(COL6A3): c.3054C> T (p.Asn1018=) single nucleotide variant Benign/Likely benign rs34367758 GRCh37 Chromosome 2, 238285431: 238285431
209 COL6A3 NM_004369.3(COL6A3): c.3054C> T (p.Asn1018=) single nucleotide variant Benign/Likely benign rs34367758 GRCh38 Chromosome 2, 237376788: 237376788
210 COL6A3 NM_004369.3(COL6A3): c.3087C> T (p.Asp1029=) single nucleotide variant Conflicting interpretations of pathogenicity rs113066678 GRCh37 Chromosome 2, 238283647: 238283647
211 COL6A3 NM_004369.3(COL6A3): c.3087C> T (p.Asp1029=) single nucleotide variant Conflicting interpretations of pathogenicity rs113066678 GRCh38 Chromosome 2, 237375004: 237375004
212 COL6A3 NM_004369.3(COL6A3): c.3088G> A (p.Val1030Met) single nucleotide variant Benign/Likely benign rs116238578 GRCh37 Chromosome 2, 238283646: 238283646
213 COL6A3 NM_004369.3(COL6A3): c.3088G> A (p.Val1030Met) single nucleotide variant Benign/Likely benign rs116238578 GRCh38 Chromosome 2, 237375003: 237375003
214 COL6A3 NM_004369.3(COL6A3): c.3191G> A (p.Arg1064Gln) single nucleotide variant Benign/Likely benign rs112638391 GRCh37 Chromosome 2, 238283543: 238283543
215 COL6A3 NM_004369.3(COL6A3): c.3191G> A (p.Arg1064Gln) single nucleotide variant Benign/Likely benign rs112638391 GRCh38 Chromosome 2, 237374900: 237374900
216 COL6A3 NM_004369.3(COL6A3): c.3262A> C (p.Lys1088Gln) single nucleotide variant Benign rs11896521 GRCh37 Chromosome 2, 238283472: 238283472
217 COL6A3 NM_004369.3(COL6A3): c.3262A> C (p.Lys1088Gln) single nucleotide variant Benign rs11896521 GRCh38 Chromosome 2, 237374829: 237374829
218 COL6A3 NM_004369.3(COL6A3): c.3420G> A (p.Thr1140=) single nucleotide variant Benign/Likely benign rs35489467 GRCh37 Chromosome 2, 238283314: 238283314
219 COL6A3 NM_004369.3(COL6A3): c.3420G> A (p.Thr1140=) single nucleotide variant Benign/Likely benign rs35489467 GRCh38 Chromosome 2, 237374671: 237374671
220 COL6A3 NM_004369.3(COL6A3): c.4090G> A (p.Val1364Met) single nucleotide variant Benign/Likely benign rs35524572 GRCh37 Chromosome 2, 238280570: 238280570
221 COL6A3 NM_004369.3(COL6A3): c.4090G> A (p.Val1364Met) single nucleotide variant Benign/Likely benign rs35524572 GRCh38 Chromosome 2, 237371927: 237371927
222 COL6A3 NM_004369.3(COL6A3): c.4107C> T (p.Ile1369=) single nucleotide variant Benign/Likely benign rs35114079 GRCh37 Chromosome 2, 238280553: 238280553
223 COL6A3 NM_004369.3(COL6A3): c.4107C> T (p.Ile1369=) single nucleotide variant Benign/Likely benign rs35114079 GRCh38 Chromosome 2, 237371910: 237371910
224 COL6A3 NM_004369.3(COL6A3): c.4184G> A (p.Arg1395Gln) single nucleotide variant Benign/Likely benign rs80272723 GRCh37 Chromosome 2, 238280476: 238280476
225 COL6A3 NM_004369.3(COL6A3): c.4184G> A (p.Arg1395Gln) single nucleotide variant Benign/Likely benign rs80272723 GRCh38 Chromosome 2, 237371833: 237371833
226 COL6A3 NM_004369.3(COL6A3): c.4285+9G> A single nucleotide variant Benign/Likely benign rs75780727 GRCh37 Chromosome 2, 238280366: 238280366
227 COL6A3 NM_004369.3(COL6A3): c.4285+9G> A single nucleotide variant Benign/Likely benign rs75780727 GRCh38 Chromosome 2, 237371723: 237371723
228 COL6A3 NM_004369.3(COL6A3): c.4399A> G (p.Asn1467Asp) single nucleotide variant Likely benign rs138049094 GRCh37 Chromosome 2, 238277707: 238277707
229 COL6A3 NM_004369.3(COL6A3): c.4399A> G (p.Asn1467Asp) single nucleotide variant Likely benign rs138049094 GRCh38 Chromosome 2, 237369064: 237369064
230 COL6A3 NM_004369.3(COL6A3): c.4503C> T (p.Asp1501=) single nucleotide variant Conflicting interpretations of pathogenicity rs115551245 GRCh37 Chromosome 2, 238277603: 238277603
231 COL6A3 NM_004369.3(COL6A3): c.4503C> T (p.Asp1501=) single nucleotide variant Conflicting interpretations of pathogenicity rs115551245 GRCh38 Chromosome 2, 237368960: 237368960
232 COL6A3 NM_004369.3(COL6A3): c.4683G> A (p.Gln1561=) single nucleotide variant Benign/Likely benign rs113074898 GRCh37 Chromosome 2, 238277423: 238277423
233 COL6A3 NM_004369.3(COL6A3): c.4683G> A (p.Gln1561=) single nucleotide variant Benign/Likely benign rs113074898 GRCh38 Chromosome 2, 237368780: 237368780
234 COL6A3 NM_004369.3(COL6A3): c.4727G> A (p.Arg1576Gln) single nucleotide variant Benign/Likely benign rs61729839 GRCh37 Chromosome 2, 238277379: 238277379
235 COL6A3 NM_004369.3(COL6A3): c.4727G> A (p.Arg1576Gln) single nucleotide variant Benign/Likely benign rs61729839 GRCh38 Chromosome 2, 237368736: 237368736
236 COL6A3 NM_004369.3(COL6A3): c.4895G> A (p.Arg1632Gln) single nucleotide variant Benign/Likely benign rs111231885 GRCh37 Chromosome 2, 238277211: 238277211
237 COL6A3 NM_004369.3(COL6A3): c.4895G> A (p.Arg1632Gln) single nucleotide variant Benign/Likely benign rs111231885 GRCh38 Chromosome 2, 237368568: 237368568
238 COL6A3 NM_004369.3(COL6A3): c.5059C> T (p.Pro1687Ser) single nucleotide variant Benign/Likely benign rs35273032 GRCh37 Chromosome 2, 238275771: 238275771
239 COL6A3 NM_004369.3(COL6A3): c.5059C> T (p.Pro1687Ser) single nucleotide variant Benign/Likely benign rs35273032 GRCh38 Chromosome 2, 237367128: 237367128
240 COL6A3 NM_004369.3(COL6A3): c.5100G> A (p.Arg1700=) single nucleotide variant Benign/Likely benign rs34340053 GRCh37 Chromosome 2, 238275730: 238275730
241 COL6A3 NM_004369.3(COL6A3): c.5100G> A (p.Arg1700=) single nucleotide variant Benign/Likely benign rs34340053 GRCh38 Chromosome 2, 237367087: 237367087
242 COL6A3 NM_004369.3(COL6A3): c.5261A> G (p.Lys1754Arg) single nucleotide variant Benign/Likely benign rs77632596 GRCh37 Chromosome 2, 238275569: 238275569
243 COL6A3 NM_004369.3(COL6A3): c.5261A> G (p.Lys1754Arg) single nucleotide variant Benign/Likely benign rs77632596 GRCh38 Chromosome 2, 237366926: 237366926
244 COL6A3 NM_004369.3(COL6A3): c.6138C> T (p.Ile2046=) single nucleotide variant Conflicting interpretations of pathogenicity rs115401779 GRCh37 Chromosome 2, 238270400: 238270400
245 COL6A3 NM_004369.3(COL6A3): c.6138C> T (p.Ile2046=) single nucleotide variant Conflicting interpretations of pathogenicity rs115401779 GRCh38 Chromosome 2, 237361757: 237361757
246 COL6A3 NM_004369.3(COL6A3): c.6156+4C> T single nucleotide variant Benign/Likely benign rs111228504 GRCh37 Chromosome 2, 238270378: 238270378
247 COL6A3 NM_004369.3(COL6A3): c.6156+4C> T single nucleotide variant Benign/Likely benign rs111228504 GRCh38 Chromosome 2, 237361735: 237361735
248 COL6A3 NM_004369.3(COL6A3): c.6210+1G> A single nucleotide variant Pathogenic rs398124126 GRCh37 Chromosome 2, 238269763: 238269763
249 COL6A3 NM_004369.3(COL6A3): c.6210+1G> A single nucleotide variant Pathogenic rs398124126 GRCh38 Chromosome 2, 237361120: 237361120
250 COL6A3 NM_004369.3(COL6A3): c.6211-3C> T single nucleotide variant Benign/Likely benign rs139622600 GRCh37 Chromosome 2, 238268805: 238268805
251 COL6A3 NM_004369.3(COL6A3): c.6211-3C> T single nucleotide variant Benign/Likely benign rs139622600 GRCh38 Chromosome 2, 237360162: 237360162
252 COL6A3 NM_004369.3(COL6A3): c.6282+1G> A single nucleotide variant Pathogenic rs398124128 GRCh37 Chromosome 2, 238268730: 238268730
253 COL6A3 NM_004369.3(COL6A3): c.6282+1G> A single nucleotide variant Pathogenic rs398124128 GRCh38 Chromosome 2, 237360087: 237360087
254 COL6A3 NM_004369.3(COL6A3): c.6369G> A (p.Leu2123=) single nucleotide variant Benign rs2646254 GRCh37 Chromosome 2, 238267717: 238267717
255 COL6A3 NM_004369.3(COL6A3): c.6369G> A (p.Leu2123=) single nucleotide variant Benign rs2646254 GRCh38 Chromosome 2, 237359074: 237359074
256 COL6A3 NM_004369.3(COL6A3): c.6653C> T (p.Pro2218Leu) single nucleotide variant Benign rs36117715 GRCh37 Chromosome 2, 238262021: 238262021
257 COL6A3 NM_004369.3(COL6A3): c.6653C> T (p.Pro2218Leu) single nucleotide variant Benign rs36117715 GRCh38 Chromosome 2, 237353378: 237353378
258 COL6A3 NM_004369.3(COL6A3): c.6855G> C (p.Gly2285=) single nucleotide variant Benign rs3790993 GRCh37 Chromosome 2, 238258814: 238258814
259 COL6A3 NM_004369.3(COL6A3): c.6855G> C (p.Gly2285=) single nucleotide variant Benign rs3790993 GRCh38 Chromosome 2, 237350171: 237350171
260 COL6A3 NM_004369.3(COL6A3): c.6869G> T (p.Arg2290Leu) single nucleotide variant Uncertain significance rs398124131 GRCh37 Chromosome 2, 238258800: 238258800
261 COL6A3 NM_004369.3(COL6A3): c.6869G> T (p.Arg2290Leu) single nucleotide variant Uncertain significance rs398124131 GRCh38 Chromosome 2, 237350157: 237350157
262 COL6A3 NM_004369.3(COL6A3): c.686C> T (p.Thr229Met) single nucleotide variant Uncertain significance rs141586922 GRCh37 Chromosome 2, 238303253: 238303253
263 COL6A3 NM_004369.3(COL6A3): c.686C> T (p.Thr229Met) single nucleotide variant Uncertain significance rs141586922 GRCh38 Chromosome 2, 237394610: 237394610
264 COL6A3 NM_004369.3(COL6A3): c.6945C> T (p.Phe2315=) single nucleotide variant Benign rs2646265 GRCh37 Chromosome 2, 238257013: 238257013
265 COL6A3 NM_004369.3(COL6A3): c.6945C> T (p.Phe2315=) single nucleotide variant Benign rs2646265 GRCh38 Chromosome 2, 237348370: 237348370
266 COL6A3 NM_004369.3(COL6A3): c.6972C> T (p.Asn2324=) single nucleotide variant Benign/Likely benign rs113961575 GRCh37 Chromosome 2, 238256507: 238256507
267 COL6A3 NM_004369.3(COL6A3): c.6972C> T (p.Asn2324=) single nucleotide variant Benign/Likely benign rs113961575 GRCh38 Chromosome 2, 237347864: 237347864
268 COL6A3 NM_004369.3(COL6A3): c.6981A> G (p.Glu2327=) single nucleotide variant Benign/Likely benign rs35993209 GRCh37 Chromosome 2, 238256498: 238256498
269 COL6A3 NM_004369.3(COL6A3): c.6981A> G (p.Glu2327=) single nucleotide variant Benign/Likely benign rs35993209 GRCh38 Chromosome 2, 237347855: 237347855
270 COL6A3 NM_004369.3(COL6A3): c.7086A> C (p.Gly2362=) single nucleotide variant Benign/Likely benign rs35902696 GRCh37 Chromosome 2, 238255152: 238255152
271 COL6A3 NM_004369.3(COL6A3): c.7086A> C (p.Gly2362=) single nucleotide variant Benign/Likely benign rs35902696 GRCh38 Chromosome 2, 237346509: 237346509
272 COL6A3 NM_004369.3(COL6A3): c.7258C> T (p.Arg2420Trp) single nucleotide variant Conflicting interpretations of pathogenicity rs150165484 GRCh37 Chromosome 2, 238253403: 238253403
273 COL6A3 NM_004369.3(COL6A3): c.7258C> T (p.Arg2420Trp) single nucleotide variant Conflicting interpretations of pathogenicity rs150165484 GRCh38 Chromosome 2, 237344760: 237344760
274 COL6A3 NM_004369.3(COL6A3): c.730A> G (p.Ile244Val) single nucleotide variant Benign/Likely benign rs116729313 GRCh37 Chromosome 2, 238296807: 238296807
275 COL6A3 NM_004369.3(COL6A3): c.730A> G (p.Ile244Val) single nucleotide variant Benign/Likely benign rs116729313 GRCh38 Chromosome 2, 237388164: 237388164
276 COL6A3 NM_004369.3(COL6A3): c.7329C> T (p.Ala2443=) single nucleotide variant Benign rs10084221 GRCh37 Chromosome 2, 238253332: 238253332
277 COL6A3 NM_004369.3(COL6A3): c.7329C> T (p.Ala2443=) single nucleotide variant Benign rs10084221 GRCh38 Chromosome 2, 237344689: 237344689
278 COL6A3 NM_004369.3(COL6A3): c.7400C> T (p.Ser2467Leu) single nucleotide variant Benign/Likely benign rs111803773 GRCh37 Chromosome 2, 238253261: 238253261
279 COL6A3 NM_004369.3(COL6A3): c.7400C> T (p.Ser2467Leu) single nucleotide variant Benign/Likely benign rs111803773 GRCh38 Chromosome 2, 237344618: 237344618
280 COL6A3 NM_004369.3(COL6A3): c.7509G> A (p.Arg2503=) single nucleotide variant Benign/Likely benign rs34181055 GRCh37 Chromosome 2, 238253152: 238253152
281 COL6A3 NM_004369.3(COL6A3): c.7509G> A (p.Arg2503=) single nucleotide variant Benign/Likely benign rs34181055 GRCh38 Chromosome 2, 237344509: 237344509
282 COL6A3 NM_004369.3(COL6A3): c.7512C> T (p.Asn2504=) single nucleotide variant Benign rs2646258 GRCh37 Chromosome 2, 238253149: 238253149
283 COL6A3 NM_004369.3(COL6A3): c.7512C> T (p.Asn2504=) single nucleotide variant Benign rs2646258 GRCh38 Chromosome 2, 237344506: 237344506
284 COL6A3 NM_004369.3(COL6A3): c.7596G> A (p.Lys2532=) single nucleotide variant Benign rs2291795 GRCh37 Chromosome 2, 238253065: 238253065
285 COL6A3 NM_004369.3(COL6A3): c.7596G> A (p.Lys2532=) single nucleotide variant Benign rs2291795 GRCh38 Chromosome 2, 237344422: 237344422
286 COL6A3 NM_004369.3(COL6A3): c.7645C> T (p.Arg2549Trp) single nucleotide variant Benign/Likely benign rs151079701 GRCh37 Chromosome 2, 238253016: 238253016
287 COL6A3 NM_004369.3(COL6A3): c.7645C> T (p.Arg2549Trp) single nucleotide variant Benign/Likely benign rs151079701 GRCh38 Chromosome 2, 237344373: 237344373
288 COL6A3 NM_004369.3(COL6A3): c.768C> T (p.Val256=) single nucleotide variant Benign/Likely benign rs79606264 GRCh37 Chromosome 2, 238296769: 238296769
289 COL6A3 NM_004369.3(COL6A3): c.768C> T (p.Val256=) single nucleotide variant Benign/Likely benign rs79606264 GRCh38 Chromosome 2, 237388126: 237388126
290 COL6A3 NM_004369.3(COL6A3): c.7779C> T (p.Ile2593=) single nucleotide variant Likely benign rs144249704 GRCh37 Chromosome 2, 238249780: 238249780
291 COL6A3 NM_004369.3(COL6A3): c.7779C> T (p.Ile2593=) single nucleotide variant Likely benign rs144249704 GRCh38 Chromosome 2, 237341137: 237341137
292 COL6A3 NM_004369.3(COL6A3): c.7842C> T (p.Ser2614=) single nucleotide variant Benign rs34558385 GRCh37 Chromosome 2, 238249717: 238249717
293 COL6A3 NM_004369.3(COL6A3): c.7842C> T (p.Ser2614=) single nucleotide variant Benign rs34558385 GRCh38 Chromosome 2, 237341074: 237341074
294 COL6A3 NM_004369.3(COL6A3): c.7995A> C (p.Ala2665=) single nucleotide variant Benign/Likely benign rs80193928 GRCh37 Chromosome 2, 238249564: 238249564
295 COL6A3 NM_004369.3(COL6A3): c.7995A> C (p.Ala2665=) single nucleotide variant Benign/Likely benign rs80193928 GRCh38 Chromosome 2, 237340921: 237340921
296 COL6A3 NM_004369.3(COL6A3): c.8010G> A (p.Ala2670=) single nucleotide variant Benign/Likely benign rs79313758 GRCh37 Chromosome 2, 238249549: 238249549
297 COL6A3 NM_004369.3(COL6A3): c.8010G> A (p.Ala2670=) single nucleotide variant Benign/Likely benign rs79313758 GRCh38 Chromosome 2, 237340906: 237340906
298 COL6A3 NM_004369.3(COL6A3): c.8145A> G (p.Leu2715=) single nucleotide variant Benign/Likely benign rs35763271 GRCh37 Chromosome 2, 238249414: 238249414
299 COL6A3 NM_004369.3(COL6A3): c.8145A> G (p.Leu2715=) single nucleotide variant Benign/Likely benign rs35763271 GRCh38 Chromosome 2, 237340771: 237340771
300 COL6A3 NM_004369.3(COL6A3): c.862G> A (p.Asp288Asn) single nucleotide variant Conflicting interpretations of pathogenicity rs115729513 GRCh37 Chromosome 2, 238296675: 238296675
301 COL6A3 NM_004369.3(COL6A3): c.862G> A (p.Asp288Asn) single nucleotide variant Conflicting interpretations of pathogenicity rs115729513 GRCh38 Chromosome 2, 237388032: 237388032
302 COL6A3 NM_004369.3(COL6A3): c.8822C> T (p.Ala2941Val) single nucleotide variant Benign/Likely benign rs11903206 GRCh37 Chromosome 2, 238244921: 238244921
303 COL6A3 NM_004369.3(COL6A3): c.8822C> T (p.Ala2941Val) single nucleotide variant Benign/Likely benign rs11903206 GRCh38 Chromosome 2, 237336278: 237336278
304 COL6A3 NM_004369.3(COL6A3): c.882C> T (p.Phe294=) single nucleotide variant Benign/Likely benign rs7561625 GRCh37 Chromosome 2, 238296655: 238296655
305 COL6A3 NM_004369.3(COL6A3): c.882C> T (p.Phe294=) single nucleotide variant Benign/Likely benign rs7561625 GRCh38 Chromosome 2, 237388012: 237388012
306 COL6A3 NM_004369.3(COL6A3): c.9069C> T (p.Thr3023=) single nucleotide variant Benign/Likely benign rs111234422 GRCh37 Chromosome 2, 238243429: 238243429
307 COL6A3 NM_004369.3(COL6A3): c.9069C> T (p.Thr3023=) single nucleotide variant Benign/Likely benign rs111234422 GRCh38 Chromosome 2, 237334786: 237334786
308 COL6A3 NM_004369.3(COL6A3): c.9123G> A (p.Thr3041=) single nucleotide variant Benign/Likely benign rs61729843 GRCh37 Chromosome 2, 238243375: 238243375
309 COL6A3 NM_004369.3(COL6A3): c.9123G> A (p.Thr3041=) single nucleotide variant Benign/Likely benign rs61729843 GRCh38 Chromosome 2, 237334732: 237334732
310 COL6A3 NM_004369.3(COL6A3): c.9129C> T (p.Arg3043=) single nucleotide variant Benign rs10201909 GRCh37 Chromosome 2, 238243369: 238243369
311 COL6A3 NM_004369.3(COL6A3): c.9129C> T (p.Arg3043=) single nucleotide variant Benign rs10201909 GRCh38 Chromosome 2, 237334726: 237334726
312 COL6A3 NM_004369.3(COL6A3): c.9411T> C (p.Cys3137=) single nucleotide variant Benign/Likely benign rs112290343 GRCh37 Chromosome 2, 238234285: 238234285
313 COL6A3 NM_004369.3(COL6A3): c.9411T> C (p.Cys3137=) single nucleotide variant Benign/Likely benign rs112290343 GRCh38 Chromosome 2, 237325642: 237325642
314 COL6A1 NM_001848.2(COL6A1): c.3054C> T (p.His1018=) single nucleotide variant Benign/Likely benign rs141237809 GRCh37 Chromosome 21, 47423894: 47423894
315 COL6A1 NM_001848.2(COL6A1): c.3054C> T (p.His1018=) single nucleotide variant Benign/Likely benign rs141237809 GRCh38 Chromosome 21, 46003980: 46003980
316 COL6A1 NM_001848.2(COL6A1): c.349G> A (p.Val117Met) single nucleotide variant Conflicting interpretations of pathogenicity rs150686304 GRCh37 Chromosome 21, 47404304: 47404304
317 COL6A1 NM_001848.2(COL6A1): c.349G> A (p.Val117Met) single nucleotide variant Conflicting interpretations of pathogenicity rs150686304 GRCh38 Chromosome 21, 45984390: 45984390
318 COL6A2; FTCD NM_001849.3(COL6A2): c.2592G> A (p.Thr864=) single nucleotide variant Benign/Likely benign rs1042930 GRCh37 Chromosome 21, 47551998: 47551998
319 COL6A2; FTCD NM_001849.3(COL6A2): c.2592G> A (p.Thr864=) single nucleotide variant Benign/Likely benign rs1042930 GRCh38 Chromosome 21, 46132084: 46132084
320 COL6A2; FTCD NM_001849.3(COL6A2): c.2980G> A (p.Ala994Thr) single nucleotide variant Benign/Likely benign rs117931394 GRCh37 Chromosome 21, 47552386: 47552386
321 COL6A2; FTCD NM_001849.3(COL6A2): c.2980G> A (p.Ala994Thr) single nucleotide variant Benign/Likely benign rs117931394 GRCh38 Chromosome 21, 46132472: 46132472
322 COL6A3 NM_004369.3(COL6A3): c.1613C> T (p.Thr538Met) single nucleotide variant Conflicting interpretations of pathogenicity rs34741387 GRCh37 Chromosome 2, 238289842: 238289842
323 COL6A3 NM_004369.3(COL6A3): c.1613C> T (p.Thr538Met) single nucleotide variant Conflicting interpretations of pathogenicity rs34741387 GRCh38 Chromosome 2, 237381199: 237381199
324 COL6A3 NM_004369.3(COL6A3): c.4005C> T (p.Gly1335=) single nucleotide variant Benign/Likely benign rs34503558 GRCh37 Chromosome 2, 238280655: 238280655
325 COL6A3 NM_004369.3(COL6A3): c.4005C> T (p.Gly1335=) single nucleotide variant Benign/Likely benign rs34503558 GRCh38 Chromosome 2, 237372012: 237372012
326 COL6A3 NM_004369.3(COL6A3): c.4156G> A (p.Glu1386Lys) single nucleotide variant Conflicting interpretations of pathogenicity rs146092501 GRCh37 Chromosome 2, 238280504: 238280504
327 COL6A3 NM_004369.3(COL6A3): c.4156G> A (p.Glu1386Lys) single nucleotide variant Conflicting interpretations of pathogenicity rs146092501 GRCh38 Chromosome 2, 237371861: 237371861
328 COL6A3 NM_004369.3(COL6A3): c.6105G> A (p.Lys2035=) single nucleotide variant Benign rs35556524 GRCh37 Chromosome 2, 238270433: 238270433
329 COL6A3 NM_004369.3(COL6A3): c.6105G> A (p.Lys2035=) single nucleotide variant Benign rs35556524 GRCh38 Chromosome 2, 237361790: 237361790
330 COL6A3 NM_004369.3(COL6A3): c.7928C> T (p.Ala2643Val) single nucleotide variant Benign/Likely benign rs111595697 GRCh37 Chromosome 2, 238249631: 238249631
331 COL6A3 NM_004369.3(COL6A3): c.7928C> T (p.Ala2643Val) single nucleotide variant Benign/Likely benign rs111595697 GRCh38 Chromosome 2, 237340988: 237340988
332 COL6A3 NM_004369.3(COL6A3): c.8009C> T (p.Ala2670Val) single nucleotide variant Uncertain significance rs142851023 GRCh37 Chromosome 2, 238249550: 238249550
333 COL6A3 NM_004369.3(COL6A3): c.8009C> T (p.Ala2670Val) single nucleotide variant Uncertain significance rs142851023 GRCh38 Chromosome 2, 237340907: 237340907
334 COL6A3 NM_004369.3(COL6A3): c.8572G> A (p.Val2858Ile) single nucleotide variant Benign/Likely benign rs111859552 GRCh37 Chromosome 2, 238245171: 238245171
335 COL6A3 NM_004369.3(COL6A3): c.8572G> A (p.Val2858Ile) single nucleotide variant Benign/Likely benign rs111859552 GRCh38 Chromosome 2, 237336528: 237336528
336 COL6A3 NM_004369.3(COL6A3): c.5681C> T (p.Pro1894Leu) single nucleotide variant Uncertain significance GRCh38 Chromosome 2, 237365855: 237365855
337 COL6A3 NM_004369.3(COL6A3): c.5681C> T (p.Pro1894Leu) single nucleotide variant Uncertain significance GRCh37 Chromosome 2, 238274498: 238274498
338 COL6A3 NM_004369.3(COL6A3): c.3040A> G (p.Lys1014Glu) single nucleotide variant Conflicting interpretations of pathogenicity rs114284669 GRCh38 Chromosome 2, 237376802: 237376802
339 COL6A3 NM_004369.3(COL6A3): c.3040A> G (p.Lys1014Glu) single nucleotide variant Conflicting interpretations of pathogenicity rs114284669 GRCh37 Chromosome 2, 238285445: 238285445
340 COL6A1 NM_001848.2(COL6A1): c.1182+3G> A single nucleotide variant Conflicting interpretations of pathogenicity rs62215499 GRCh38 Chromosome 21, 45992075: 45992075
341 COL6A1 NM_001848.2(COL6A1): c.1182+3G> A single nucleotide variant Conflicting interpretations of pathogenicity rs62215499 GRCh37 Chromosome 21, 47411989: 47411989
342 COL6A1 NM_001848.2(COL6A1): c.2635A> G (p.Ser879Gly) single nucleotide variant Conflicting interpretations of pathogenicity rs140534207 GRCh38 Chromosome 21, 46003561: 46003561
343 COL6A1 NM_001848.2(COL6A1): c.2635A> G (p.Ser879Gly) single nucleotide variant Conflicting interpretations of pathogenicity rs140534207 GRCh37 Chromosome 21, 47423475: 47423475
344 COL6A2 NM_058175.2(COL6A2): c.148G> A (p.Val50Met) single nucleotide variant Uncertain significance rs727502826 GRCh38 Chromosome 21, 46112011: 46112011
345 COL6A2 NM_058175.2(COL6A2): c.148G> A (p.Val50Met) single nucleotide variant Uncertain significance rs727502826 GRCh37 Chromosome 21, 47531925: 47531925
346 COL6A2 NM_001849.3(COL6A2): c.857G> A (p.Gly286Glu) single nucleotide variant Likely pathogenic rs727502827 GRCh38 Chromosome 21, 46116010: 46116010
347 COL6A2 NM_001849.3(COL6A2): c.857G> A (p.Gly286Glu) single nucleotide variant Likely pathogenic rs727502827 GRCh37 Chromosome 21, 47535924: 47535924
348 COL6A2 NM_001849.3(COL6A2): c.911G> T (p.Gly304Val) single nucleotide variant Likely pathogenic rs727502832 GRCh38 Chromosome 21, 46116387: 46116387
349 COL6A2 NM_001849.3(COL6A2): c.911G> T (p.Gly304Val) single nucleotide variant Likely pathogenic rs727502832 GRCh37 Chromosome 21, 47536301: 47536301
350 COL6A2 NM_001849.3(COL6A2): c.2508C> A (p.Phe836Leu) single nucleotide variant Uncertain significance rs727502835 GRCh38 Chromosome 21, 46132000: 46132000
351 COL6A2 NM_001849.3(COL6A2): c.2508C> A (p.Phe836Leu) single nucleotide variant Uncertain significance rs727502835 GRCh37 Chromosome 21, 47551914: 47551914
352 COL6A2 NM_001849.3(COL6A2): c.2558G> A (p.Arg853Gln) single nucleotide variant Benign/Likely benign rs144830948 GRCh38 Chromosome 21, 46132050: 46132050
353 COL6A2 NM_001849.3(COL6A2): c.2558G> A (p.Arg853Gln) single nucleotide variant Benign/Likely benign rs144830948 GRCh37 Chromosome 21, 47551964: 47551964
354 COL6A3 NM_004369.3(COL6A3): c.7007C> T (p.Pro2336Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs202092407 GRCh37 Chromosome 2, 238256472: 238256472
355 COL6A3 NM_004369.3(COL6A3): c.7007C> T (p.Pro2336Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs202092407 GRCh38 Chromosome 2, 237347829: 237347829
356 COL6A3 NM_004369.3(COL6A3): c.34G> A (p.Val12Ile) single nucleotide variant Benign/Likely benign rs137910388 GRCh37 Chromosome 2, 238305427: 238305427
357 COL6A3 NM_004369.3(COL6A3): c.34G> A (p.Val12Ile) single nucleotide variant Benign/Likely benign rs137910388 GRCh38 Chromosome 2, 237396784: 237396784
358 COL6A2 NM_001849.3(COL6A2): c.1336G> C (p.Asp446His) single nucleotide variant Uncertain significance rs535007570 GRCh37 Chromosome 21, 47540432: 47540432
359 COL6A2 NM_001849.3(COL6A2): c.1336G> C (p.Asp446His) single nucleotide variant Uncertain significance rs535007570 GRCh38 Chromosome 21, 46120518: 46120518
360 COL6A3 NM_004369.3(COL6A3): c.4510C> T (p.Arg1504Trp) single nucleotide variant Uncertain significance rs144223596 GRCh37 Chromosome 2, 238277596: 238277596
361 COL6A3 NM_004369.3(COL6A3): c.4510C> T (p.Arg1504Trp) single nucleotide variant Uncertain significance rs144223596 GRCh38 Chromosome 2, 237368953: 237368953
362 COL6A2 NM_001849.3(COL6A2): c.2605G> A (p.Asp869Asn) single nucleotide variant Benign/Likely benign rs141021828 GRCh37 Chromosome 21, 47552011: 47552011
363 COL6A2 NM_001849.3(COL6A2): c.2605G> A (p.Asp869Asn) single nucleotide variant Benign/Likely benign rs141021828 GRCh38 Chromosome 21, 46132097: 46132097
364 COL6A3 NM_004369.3(COL6A3): c.6751C> T (p.Arg2251Trp) single nucleotide variant Benign/Likely benign rs116690555 GRCh37 Chromosome 2, 238261167: 238261167
365 COL6A3 NM_004369.3(COL6A3): c.6751C> T (p.Arg2251Trp) single nucleotide variant Benign/Likely benign rs116690555 GRCh38 Chromosome 2, 237352524: 237352524
366 COL6A2 NM_001849.3(COL6A2): c.2528G> A (p.Arg843Gln) single nucleotide variant Uncertain significance rs201736323 GRCh37 Chromosome 21, 47551934: 47551934
367 COL6A2 NM_001849.3(COL6A2): c.2528G> A (p.Arg843Gln) single nucleotide variant Uncertain significance rs201736323 GRCh38 Chromosome 21, 46132020: 46132020
368 COL6A3 NM_004369.3(COL6A3): c.8735C> T (p.Pro2912Leu) single nucleotide variant Benign/Likely benign rs112928650 GRCh37 Chromosome 2, 238245008: 238245008
369 COL6A3 NM_004369.3(COL6A3): c.8735C> T (p.Pro2912Leu) single nucleotide variant Benign/Likely benign rs112928650 GRCh38 Chromosome 2, 237336365: 237336365
370 COL6A3 NM_004369.3(COL6A3): c.3287G> A (p.Arg1096His) single nucleotide variant Conflicting interpretations of pathogenicity rs200860322 GRCh37 Chromosome 2, 238283447: 238283447
371 COL6A3 NM_004369.3(COL6A3): c.3287G> A (p.Arg1096His) single nucleotide variant Conflicting interpretations of pathogenicity rs200860322 GRCh38 Chromosome 2, 237374804: 237374804
372 COL6A1 NM_001848.2(COL6A1): c.1611C> T (p.Asn537=) single nucleotide variant Conflicting interpretations of pathogenicity rs200023632 GRCh37 Chromosome 21, 47418347: 47418347
373 COL6A1 NM_001848.2(COL6A1): c.1611C> T (p.Asn537=) single nucleotide variant Conflicting interpretations of pathogenicity rs200023632 GRCh38 Chromosome 21, 45998433: 45998433
374 COL6A2 NM_001849.3(COL6A2): c.2220T> C (p.Asp740=) single nucleotide variant Benign/Likely benign rs61735830 GRCh37 Chromosome 21, 47545949: 47545949
375 COL6A2 NM_001849.3(COL6A2): c.2220T> C (p.Asp740=) single nucleotide variant Benign/Likely benign rs61735830 GRCh38 Chromosome 21, 46126035: 46126035
376 COL6A3 NM_004369.3(COL6A3): c.7401G> A (p.Ser2467=) single nucleotide variant Conflicting interpretations of pathogenicity rs377572272 GRCh37 Chromosome 2, 238253260: 238253260
377 COL6A3 NM_004369.3(COL6A3): c.7401G> A (p.Ser2467=) single nucleotide variant Conflicting interpretations of pathogenicity rs377572272 GRCh38 Chromosome 2, 237344617: 237344617
378 COL6A3 NM_004369.3(COL6A3): c.5619C> T (p.His1873=) single nucleotide variant Conflicting interpretations of pathogenicity rs146355600 GRCh37 Chromosome 2, 238274560: 238274560
379 COL6A3 NM_004369.3(COL6A3): c.5619C> T (p.His1873=) single nucleotide variant Conflicting interpretations of pathogenicity rs146355600 GRCh38 Chromosome 2, 237365917: 237365917
380 COL6A3 NM_004369.3(COL6A3): c.3270C> T (p.Asp1090=) single nucleotide variant Conflicting interpretations of pathogenicity rs113781746 GRCh37 Chromosome 2, 238283464: 238283464
381 COL6A3 NM_004369.3(COL6A3): c.3270C> T (p.Asp1090=) single nucleotide variant Conflicting interpretations of pathogenicity rs113781746 GRCh38 Chromosome 2, 237374821: 237374821
382 COL6A3 NM_004369.3(COL6A3): c.292A> T (p.Thr98Ser) single nucleotide variant Benign/Likely benign rs76646066 GRCh37 Chromosome 2, 238303647: 238303647
383 COL6A3 NM_004369.3(COL6A3): c.292A> T (p.Thr98Ser) single nucleotide variant Benign/Likely benign rs76646066 GRCh38 Chromosome 2, 237395004: 237395004
384 COL6A3 NM_004369.3(COL6A3): c.7660G> A (p.Ala2554Thr) single nucleotide variant Uncertain significance rs786205870 GRCh38 Chromosome 2, 237344358: 237344358
385 COL6A3 NM_004369.3(COL6A3): c.7660G> A (p.Ala2554Thr) single nucleotide variant Uncertain significance rs786205870 GRCh37 Chromosome 2, 238253001: 238253001
386 COL6A3 NM_004369.3(COL6A3): c.9128G> A (p.Arg3043His) single nucleotide variant Conflicting interpretations of pathogenicity rs552651651 GRCh38 Chromosome 2, 237334727: 237334727
387 COL6A3 NM_004369.3(COL6A3): c.9128G> A (p.Arg3043His) single nucleotide variant Conflicting interpretations of pathogenicity rs552651651 GRCh37 Chromosome 2, 238243370: 238243370
388 COL6A3 NM_004369.3(COL6A3): c.9245C> G (p.Pro3082Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs182976977 GRCh38 Chromosome 2, 237333533: 237333533
389 COL6A3 NM_004369.3(COL6A3): c.9245C> G (p.Pro3082Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs182976977 GRCh37 Chromosome 2, 238242176: 238242176
390 COL6A3 NM_004369.3(COL6A3): c.8966-1G> C single nucleotide variant Pathogenic rs767517186 GRCh37 Chromosome 2, 238243533: 238243533
391 COL6A3 NM_004369.3(COL6A3): c.8966-1G> C single nucleotide variant Pathogenic rs767517186 GRCh38 Chromosome 2, 237334890: 237334890
392 COL6A2 NM_001849.3(COL6A2): c.988G> A (p.Asp330Asn) single nucleotide variant Conflicting interpretations of pathogenicity rs139399166 GRCh37 Chromosome 21, 47536717: 47536717
393 COL6A2 NM_001849.3(COL6A2): c.988G> A (p.Asp330Asn) single nucleotide variant Conflicting interpretations of pathogenicity rs139399166 GRCh38 Chromosome 21, 46116803: 46116803
394 COL6A1 NM_001848.2(COL6A1): c.904G> C (p.Gly302Arg) single nucleotide variant Pathogenic rs794727028 GRCh37 Chromosome 21, 47409666: 47409666
395 COL6A1 NM_001848.2(COL6A1): c.904G> C (p.Gly302Arg) single nucleotide variant Pathogenic rs794727028 GRCh38 Chromosome 21, 45989752: 45989752
396 COL6A3 NM_004369.3(COL6A3): c.5341A> G (p.Ile1781Val) single nucleotide variant Uncertain significance rs145447965 GRCh37 Chromosome 2, 238275489: 238275489
397 COL6A3 NM_004369.3(COL6A3): c.5341A> G (p.Ile1781Val) single nucleotide variant Uncertain significance rs145447965 GRCh38 Chromosome 2, 237366846: 237366846
398 COL6A2 NM_001849.3(COL6A2): c.1070C> G (p.Pro357Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs199929757 GRCh37 Chromosome 21, 47537804: 47537804
399 COL6A2 NM_001849.3(COL6A2): c.1070C> G (p.Pro357Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs199929757 GRCh38 Chromosome 21, 46117890: 46117890
400 COL6A2 NM_001849.3(COL6A2): c.1063G> T (p.Gly355Cys) single nucleotide variant Likely pathogenic rs794727061 GRCh37 Chromosome 21, 47537797: 47537797
401 COL6A2 NM_001849.3(COL6A2): c.1063G> T (p.Gly355Cys) single nucleotide variant Likely pathogenic rs794727061 GRCh38 Chromosome 21, 46117883: 46117883
402 COL6A3 NM_004369.3(COL6A3): c.5712C> T (p.Asp1904=) single nucleotide variant Benign/Likely benign rs151234107 GRCh37 Chromosome 2, 238274467: 238274467
403 COL6A3 NM_004369.3(COL6A3): c.5712C> T (p.Asp1904=) single nucleotide variant Benign/Likely benign rs151234107 GRCh38 Chromosome 2, 237365824: 237365824
404 COL6A1 NM_001848.2(COL6A1): c.981C> T (p.Ile327=) single nucleotide variant Likely benign rs138401567 GRCh37 Chromosome 21, 47410315: 47410315
405 COL6A1 NM_001848.2(COL6A1): c.981C> T (p.Ile327=) single nucleotide variant Likely benign rs138401567 GRCh38 Chromosome 21, 45990401: 45990401
406 COL6A1 NM_001848.2(COL6A1): c.1013G> A (p.Gly338Glu) single nucleotide variant Pathogenic rs794727121 GRCh37 Chromosome 21, 47410697: 47410697
407 COL6A1 NM_001848.2(COL6A1): c.1013G> A (p.Gly338Glu) single nucleotide variant Pathogenic rs794727121 GRCh38 Chromosome 21, 45990783: 45990783
408 COL6A2 NM_001849.3(COL6A2): c.1336G> A (p.Asp446Asn) single nucleotide variant Conflicting interpretations of pathogenicity rs535007570 GRCh37 Chromosome 21, 47540432: 47540432
409 COL6A2 NM_001849.3(COL6A2): c.1336G> A (p.Asp446Asn) single nucleotide variant Conflicting interpretations of pathogenicity rs535007570 GRCh38 Chromosome 21, 46120518: 46120518
410 COL6A2 NM_001849.3(COL6A2): c.1333-10C> G single nucleotide variant Conflicting interpretations of pathogenicity rs199513044 GRCh37 Chromosome 21, 47540419: 47540419
411 COL6A2 NM_001849.3(COL6A2): c.1333-10C> G single nucleotide variant Conflicting interpretations of pathogenicity rs199513044 GRCh38 Chromosome 21, 46120505: 46120505
412 COL6A2 NM_001849.3(COL6A2): c.1437T> C (p.Ala479=) single nucleotide variant Conflicting interpretations of pathogenicity rs149077114 GRCh37 Chromosome 21, 47541016: 47541016
413 COL6A2 NM_001849.3(COL6A2): c.1437T> C (p.Ala479=) single nucleotide variant Conflicting interpretations of pathogenicity rs149077114 GRCh38 Chromosome 21, 46121102: 46121102
414 COL6A3 NM_004369.3(COL6A3): c.6239G> A (p.Gly2080Asp) single nucleotide variant Pathogenic rs794727188 GRCh37 Chromosome 2, 238268774: 238268774
415 COL6A3 NM_004369.3(COL6A3): c.6239G> A (p.Gly2080Asp) single nucleotide variant Pathogenic rs794727188 GRCh38 Chromosome 2, 237360131: 237360131
416 COL6A1 NM_001848.2(COL6A1): c.202C> T (p.Arg68Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs137964147 GRCh37 Chromosome 21, 47402652: 47402652
417 COL6A1 NM_001848.2(COL6A1): c.202C> T (p.Arg68Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs137964147 GRCh38 Chromosome 21, 45982738: 45982738
418 COL6A1 NM_001848.2(COL6A1): c.170C> A (p.Ala57Asp) single nucleotide variant Conflicting interpretations of pathogenicity rs143502850 GRCh37 Chromosome 21, 47402620: 47402620
419 COL6A1 NM_001848.2(COL6A1): c.170C> A (p.Ala57Asp) single nucleotide variant Conflicting interpretations of pathogenicity rs143502850 GRCh38 Chromosome 21, 45982706: 45982706
420 COL6A2 NM_001849.3(COL6A2): c.22G> A (p.Val8Met) single nucleotide variant Conflicting interpretations of pathogenicity rs192476178 GRCh37 Chromosome 21, 47531412: 47531412
421 COL6A2 NM_001849.3(COL6A2): c.22G> A (p.Val8Met) single nucleotide variant Conflicting interpretations of pathogenicity rs192476178 GRCh38 Chromosome 21, 46111498: 46111498
422 COL6A1 NM_001848.2(COL6A1): c.1350G> A (p.Pro450=) single nucleotide variant Conflicting interpretations of pathogenicity rs144887329 GRCh37 Chromosome 21, 47414095: 47414095
423 COL6A1 NM_001848.2(COL6A1): c.1350G> A (p.Pro450=) single nucleotide variant Conflicting interpretations of pathogenicity rs144887329 GRCh38 Chromosome 21, 45994181: 45994181
424 COL6A1 NM_001848.2(COL6A1): c.1684A> G (p.Ile562Val) single nucleotide variant Uncertain significance rs374315921 GRCh37 Chromosome 21, 47419076: 47419076
425 COL6A1 NM_001848.2(COL6A1): c.1684A> G (p.Ile562Val) single nucleotide variant Uncertain significance rs374315921 GRCh38 Chromosome 21, 45999162: 45999162
426 COL6A2 NM_001849.3(COL6A2): c.2332G> A (p.Asp778Asn) single nucleotide variant Benign/Likely benign rs28562813 GRCh37 Chromosome 21, 47546061: 47546061
427 COL6A2 NM_001849.3(COL6A2): c.2332G> A (p.Asp778Asn) single nucleotide variant Benign/Likely benign rs28562813 GRCh38 Chromosome 21, 46126147: 46126147
428 COL6A2 NM_001849.3(COL6A2): c.2517C> T (p.Asp839=) single nucleotide variant Conflicting interpretations of pathogenicity rs113002150 GRCh37 Chromosome 21, 47551923: 47551923
429 COL6A2 NM_001849.3(COL6A2): c.2517C> T (p.Asp839=) single nucleotide variant Conflicting interpretations of pathogenicity rs113002150 GRCh38 Chromosome 21, 46132009: 46132009
430 COL6A2 NM_001849.3(COL6A2): c.2796G> A (p.Pro932=) single nucleotide variant Benign rs373274913 GRCh37 Chromosome 21, 47552202: 47552202
431 COL6A2 NM_001849.3(COL6A2): c.2796G> A (p.Pro932=) single nucleotide variant Benign rs373274913 GRCh38 Chromosome 21, 46132288: 46132288
432 COL6A2 NM_001849.3(COL6A2): c.2871G> A (p.Leu957=) single nucleotide variant Benign/Likely benign rs548194162 GRCh37 Chromosome 21, 47552277: 47552277
433 COL6A2 NM_001849.3(COL6A2): c.2871G> A (p.Leu957=) single nucleotide variant Benign/Likely benign rs548194162 GRCh38 Chromosome 21, 46132363: 46132363
434 COL6A2 NM_001849.3(COL6A2): c.2751G> T (p.Val917=) single nucleotide variant Conflicting interpretations of pathogenicity rs111341650 GRCh37 Chromosome 21, 47552157: 47552157
435 COL6A2 NM_001849.3(COL6A2): c.2751G> T (p.Val917=) single nucleotide variant Conflicting interpretations of pathogenicity rs111341650 GRCh38 Chromosome 21, 46132243: 46132243
436 COL6A2 NM_001849.3(COL6A2): c.2462-5dupC duplication Likely benign rs797044699 GRCh37 Chromosome 21, 47551863: 47551863
437 COL6A2 NM_001849.3(COL6A2): c.2462-5dupC duplication Likely benign rs797044699 GRCh38 Chromosome 21, 46131949: 46131949
438 COL6A2 NM_001849.3(COL6A2): c.2683A> C (p.Ser895Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs141233891 GRCh37 Chromosome 21, 47552089: 47552089
439 COL6A2 NM_001849.3(COL6A2): c.2683A> C (p.Ser895Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs141233891 GRCh38 Chromosome 21, 46132175: 46132175
440 COL6A2 NM_001849.3(COL6A2): c.2944A> G (p.Met982Val) single nucleotide variant Benign/Likely benign rs190664941 GRCh37 Chromosome 21, 47552350: 47552350
441 COL6A2 NM_001849.3(COL6A2): c.2944A> G (p.Met982Val) single nucleotide variant Benign/Likely benign rs190664941 GRCh38 Chromosome 21, 46132436: 46132436
442 COL6A2 NM_001849.3(COL6A2): c.2850C> T (p.Gly950=) single nucleotide variant Conflicting interpretations of pathogenicity rs751192681 GRCh37 Chromosome 21, 47552256: 47552256
443 COL6A2 NM_001849.3(COL6A2): c.2850C> T (p.Gly950=) single nucleotide variant Conflicting interpretations of pathogenicity rs751192681 GRCh38 Chromosome 21, 46132342: 46132342
444 COL6A2 NM_001849.3(COL6A2): c.2605G> T (p.Asp869Tyr) single nucleotide variant Conflicting interpretations of pathogenicity rs141021828 GRCh37 Chromosome 21, 47552011: 47552011
445 COL6A2 NM_001849.3(COL6A2): c.2605G> T (p.Asp869Tyr) single nucleotide variant Conflicting interpretations of pathogenicity rs141021828 GRCh38 Chromosome 21, 46132097: 46132097
446 COL6A1 NM_001848.2(COL6A1): c.324C> T (p.Gly108=) single nucleotide variant Benign/Likely benign rs138646508 GRCh37 Chromosome 21, 47404279: 47404279
447 COL6A1 NM_001848.2(COL6A1): c.324C> T (p.Gly108=) single nucleotide variant Benign/Likely benign rs138646508 GRCh38 Chromosome 21, 45984365: 45984365
448 COL6A2 NM_001849.3(COL6A2): c.510C> T (p.Cys170=) single nucleotide variant Benign/Likely benign rs142328765 GRCh37 Chromosome 21, 47532287: 47532287
449 COL6A2 NM_001849.3(COL6A2): c.510C> T (p.Cys170=) single nucleotide variant Benign/Likely benign rs142328765 GRCh38 Chromosome 21, 46112373: 46112373
450 COL6A2 NM_001849.3(COL6A2): c.483C> T (p.Thr161=) single nucleotide variant Benign/Likely benign rs138312213 GRCh37 Chromosome 21, 47532260: 47532260
451 COL6A2 NM_001849.3(COL6A2): c.483C> T (p.Thr161=) single nucleotide variant Benign/Likely benign rs138312213 GRCh38 Chromosome 21, 46112346: 46112346
452 COL6A1 NM_001848.2(COL6A1): c.2045G> A (p.Arg682Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs148962954 GRCh37 Chromosome 21, 47421963: 47421963
453 COL6A1 NM_001848.2(COL6A1): c.2045G> A (p.Arg682Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs148962954 GRCh38 Chromosome 21, 46002049: 46002049
454 COL6A1 NM_001848.2(COL6A1): c.2220G> A (p.Pro740=) single nucleotide variant Benign/Likely benign rs138976133 GRCh37 Chromosome 21, 47422285: 47422285
455 COL6A1 NM_001848.2(COL6A1): c.2220G> A (p.Pro740=) single nucleotide variant Benign/Likely benign rs138976133 GRCh38 Chromosome 21, 46002371: 46002371
456 COL6A1 NM_001848.2(COL6A1): c.2469G> A (p.Thr823=) single nucleotide variant Likely benign rs146662894 GRCh37 Chromosome 21, 47423309: 47423309
457 COL6A1 NM_001848.2(COL6A1): c.2469G> A (p.Thr823=) single nucleotide variant Likely benign rs146662894 GRCh38 Chromosome 21, 46003395: 46003395
458 COL6A1 NM_001848.2(COL6A1): c.2866G> A (p.Glu956Lys) single nucleotide variant Benign/Likely benign rs149534094 GRCh37 Chromosome 21, 47423706: 47423706
459 COL6A1 NM_001848.2(COL6A1): c.2866G> A (p.Glu956Lys) single nucleotide variant Benign/Likely benign rs149534094 GRCh38 Chromosome 21, 46003792: 46003792
460 COL6A1 NM_001848.2(COL6A1): c.2809A> G (p.Lys937Glu) single nucleotide variant Conflicting interpretations of pathogenicity rs117583120 GRCh37 Chromosome 21, 47423649: 47423649
461 COL6A1 NM_001848.2(COL6A1): c.2809A> G (p.Lys937Glu) single nucleotide variant Conflicting interpretations of pathogenicity rs117583120 GRCh38 Chromosome 21, 46003735: 46003735
462 COL6A3 NM_004369.3(COL6A3): c.7447A> G (p.Lys2483Glu) single nucleotide variant Conflicting interpretations of pathogenicity rs139260335 GRCh37 Chromosome 2, 238253214: 238253214
463 COL6A3 NM_004369.3(COL6A3): c.7447A> G (p.Lys2483Glu) single nucleotide variant Conflicting interpretations of pathogenicity rs139260335 GRCh38 Chromosome 2, 237344571: 237344571
464 COL6A3 NM_004369.3(COL6A3): c.7175-6C> G single nucleotide variant Conflicting interpretations of pathogenicity rs199723531 GRCh37 Chromosome 2, 238253492: 238253492
465 COL6A3 NM_004369.3(COL6A3): c.7175-6C> G single nucleotide variant Conflicting interpretations of pathogenicity rs199723531 GRCh38 Chromosome 2, 237344849: 237344849
466 COL6A3 NM_004369.3(COL6A3): c.7514G> T (p.Gly2505Val) single nucleotide variant Uncertain significance rs794727591 GRCh37 Chromosome 2, 238253147: 238253147
467 COL6A3 NM_004369.3(COL6A3): c.7514G> T (p.Gly2505Val) single nucleotide variant Uncertain significance rs794727591 GRCh38 Chromosome 2, 237344504: 237344504
468 COL6A3 NM_004369.3(COL6A3): c.7441A> G (p.Thr2481Ala) single nucleotide variant Uncertain significance rs201467603 GRCh37 Chromosome 2, 238253220: 238253220
469 COL6A3 NM_004369.3(COL6A3): c.7441A> G (p.Thr2481Ala) single nucleotide variant Uncertain significance rs201467603 GRCh38 Chromosome 2, 237344577: 237344577
470 COL6A3 NM_004369.3(COL6A3): c.8346G> A (p.Glu2782=) single nucleotide variant Benign/Likely benign rs35911211 GRCh37 Chromosome 2, 238249213: 238249213
471 COL6A3 NM_004369.3(COL6A3): c.8346G> A (p.Glu2782=) single nucleotide variant Benign/Likely benign rs35911211 GRCh38 Chromosome 2, 237340570: 237340570
472 COL6A3 NM_004369.3(COL6A3): c.8189C> A (p.Ala2730Asp) single nucleotide variant Conflicting interpretations of pathogenicity rs138466455 GRCh37 Chromosome 2, 238249370: 238249370
473 COL6A3 NM_004369.3(COL6A3): c.8189C> A (p.Ala2730Asp) single nucleotide variant Conflicting interpretations of pathogenicity rs138466455 GRCh38 Chromosome 2, 237340727: 237340727
474 COL6A3 NM_004369.3(COL6A3): c.8465-7delT deletion Benign/Likely benign rs111494366 GRCh37 Chromosome 2, 238247767: 238247767
475 COL6A3 NM_004369.3(COL6A3): c.8465-7delT deletion Benign/Likely benign rs111494366 GRCh38 Chromosome 2, 237339124: 237339124
476 COL6A3 NM_004369.3(COL6A3): c.8745G> A (p.Ala2915=) single nucleotide variant Benign/Likely benign rs112382351 GRCh37 Chromosome 2, 238244998: 238244998
477 COL6A3 NM_004369.3(COL6A3): c.8745G> A (p.Ala2915=) single nucleotide variant Benign/Likely benign rs112382351 GRCh38 Chromosome 2, 237336355: 237336355
478 COL6A3 NM_004369.3(COL6A3): c.8819C> T (p.Thr2940Met) single nucleotide variant Conflicting interpretations of pathogenicity rs200626456 GRCh37 Chromosome 2, 238244924: 238244924
479 COL6A3 NM_004369.3(COL6A3): c.8819C> T (p.Thr2940Met) single nucleotide variant Conflicting interpretations of pathogenicity rs200626456 GRCh38 Chromosome 2, 237336281: 237336281
480 COL6A3 NM_004369.3(COL6A3): c.8724C> T (p.Ala2908=) single nucleotide variant Conflicting interpretations of pathogenicity rs114684687 GRCh37 Chromosome 2, 238245019: 238245019
481 COL6A3 NM_004369.3(COL6A3): c.8724C> T (p.Ala2908=) single nucleotide variant Conflicting interpretations of pathogenicity rs114684687 GRCh38 Chromosome 2, 237336376: 237336376
482 COL6A3 NM_004369.3(COL6A3): c.8970G> A (p.Lys2990=) single nucleotide variant Conflicting interpretations of pathogenicity rs113721676 GRCh37 Chromosome 2, 238243528: 238243528
483 COL6A3 NM_004369.3(COL6A3): c.8970G> A (p.Lys2990=) single nucleotide variant Conflicting interpretations of pathogenicity rs113721676 GRCh38 Chromosome 2, 237334885: 237334885
484 COL6A3 NM_004369.3(COL6A3): c.9351C> T (p.Asp3117=) single nucleotide variant Conflicting interpretations of pathogenicity rs148821986 GRCh37 Chromosome 2, 238234345: 238234345
485 COL6A3 NM_004369.3(COL6A3): c.9351C> T (p.Asp3117=) single nucleotide variant Conflicting interpretations of pathogenicity rs148821986 GRCh38 Chromosome 2, 237325702: 237325702
486 COL6A2 NM_001849.3(COL6A2): c.801+1G> A single nucleotide variant Pathogenic/Likely pathogenic rs794727715 GRCh37 Chromosome 21, 47533988: 47533988
487 COL6A2 NM_001849.3(COL6A2): c.801+1G> A single nucleotide variant Pathogenic/Likely pathogenic rs794727715 GRCh38 Chromosome 21, 46114074: 46114074
488 COL6A3 NM_004369.3(COL6A3): c.1478T> C (p.Val493Ala) single nucleotide variant Benign/Likely benign rs116794756 GRCh37 Chromosome 2, 238289977: 238289977
489 COL6A3 NM_004369.3(COL6A3): c.1478T> C (p.Val493Ala) single nucleotide variant Benign/Likely benign rs116794756 GRCh38 Chromosome 2, 237381334: 237381334
490 COL6A3 NM_004369.3(COL6A3): c.1761C> T (p.Ala587=) single nucleotide variant Benign/Likely benign rs34978064 GRCh37 Chromosome 2, 238289694: 238289694
491 COL6A3 NM_004369.3(COL6A3): c.1761C> T (p.Ala587=) single nucleotide variant Benign/Likely benign rs34978064 GRCh38 Chromosome 2, 237381051: 237381051
492 COL6A2 NM_001849.3(COL6A2): c.812G> A (p.Gly271Asp) single nucleotide variant Pathogenic rs794727788 GRCh37 Chromosome 21, 47535796: 47535796
493 COL6A2 NM_001849.3(COL6A2): c.812G> A (p.Gly271Asp) single nucleotide variant Pathogenic rs794727788 GRCh38 Chromosome 21, 46115882: 46115882
494 COL6A3 NM_004369.3(COL6A3): c.2292C> T (p.Asn764=) single nucleotide variant Conflicting interpretations of pathogenicity rs116066149 GRCh37 Chromosome 2, 238287484: 238287484
495 COL6A3 NM_004369.3(COL6A3): c.2292C> T (p.Asn764=) single nucleotide variant Conflicting interpretations of pathogenicity rs116066149 GRCh38 Chromosome 2, 237378841: 237378841
496 COL6A3 NM_004369.3(COL6A3): c.2030G> A (p.Arg677His) single nucleotide variant Benign/Likely benign rs35227432 GRCh37 Chromosome 2, 238287746: 238287746
497 COL6A3 NM_004369.3(COL6A3): c.2030G> A (p.Arg677His) single nucleotide variant Benign/Likely benign rs35227432 GRCh38 Chromosome 2, 237379103: 237379103
498 COL6A3 NM_004369.3(COL6A3): c.2444C> A (p.Pro815His) single nucleotide variant Uncertain significance rs199601240 GRCh37 Chromosome 2, 238287332: 238287332
499 COL6A3 NM_004369.3(COL6A3): c.2444C> A (p.Pro815His) single nucleotide variant Uncertain significance rs199601240 GRCh38 Chromosome 2, 237378689: 237378689
500 COL6A2 NM_001849.3(COL6A2): c.875G> T (p.Gly292Val) single nucleotide variant Pathogenic rs794727855 GRCh37 Chromosome 21, 47535942: 47535942
501 COL6A2 NM_001849.3(COL6A2): c.875G> T (p.Gly292Val) single nucleotide variant Pathogenic rs794727855 GRCh38 Chromosome 21, 46116028: 46116028
502 COL6A3 NM_004369.3(COL6A3): c.3063A> G (p.Pro1021=) single nucleotide variant Conflicting interpretations of pathogenicity rs200098134 GRCh37 Chromosome 2, 238285422: 238285422
503 COL6A3 NM_004369.3(COL6A3): c.3063A> G (p.Pro1021=) single nucleotide variant Conflicting interpretations of pathogenicity rs200098134 GRCh38 Chromosome 2, 237376779: 237376779
504 COL6A3 NM_004369.3(COL6A3): c.3446G> A (p.Arg1149Gln) single nucleotide variant Likely benign rs36062562 GRCh37 Chromosome 2, 238283288: 238283288
505 COL6A3 NM_004369.3(COL6A3): c.3446G> A (p.Arg1149Gln) single nucleotide variant Likely benign rs36062562 GRCh38 Chromosome 2, 237374645: 237374645
506 COL6A3 NM_004369.3(COL6A3): c.4103C> T (p.Thr1368Met) single nucleotide variant Conflicting interpretations of pathogenicity rs116505603 GRCh37 Chromosome 2, 238280557: 238280557
507 COL6A3 NM_004369.3(COL6A3): c.4103C> T (p.Thr1368Met) single nucleotide variant Conflicting interpretations of pathogenicity rs116505603 GRCh38 Chromosome 2, 237371914: 237371914
508 COL6A3 NM_004369.3(COL6A3): c.3879T> G (p.Asp1293Glu) single nucleotide variant Benign/Likely benign rs74425496 GRCh37 Chromosome 2, 238280781: 238280781
509 COL6A3 NM_004369.3(COL6A3): c.3879T> G (p.Asp1293Glu) single nucleotide variant Benign/Likely benign rs74425496 GRCh38 Chromosome 2, 237372138: 237372138
510 COL6A3 NM_004369.3(COL6A3): c.4217C> T (p.Thr1406Met) single nucleotide variant Likely benign rs114061998 GRCh37 Chromosome 2, 238280443: 238280443
511 COL6A3 NM_004369.3(COL6A3): c.4217C> T (p.Thr1406Met) single nucleotide variant Likely benign rs114061998 GRCh38 Chromosome 2, 237371800: 237371800
512 COL6A1 NM_001848.2(COL6A1): c.821C> T (p.Pro274Leu) single nucleotide variant Uncertain significance rs201093313 GRCh37 Chromosome 21, 47409014: 47409014
513 COL6A1 NM_001848.2(COL6A1): c.821C> T (p.Pro274Leu) single nucleotide variant Uncertain significance rs201093313 GRCh38 Chromosome 21, 45989100: 45989100
514 COL6A3 NM_004369.3(COL6A3): c.6283-2A> C single nucleotide variant Likely pathogenic rs797044988 GRCh37 Chromosome 2, 238268033: 238268033
515 COL6A3 NM_004369.3(COL6A3): c.6283-2A> C single nucleotide variant Likely pathogenic rs797044988 GRCh38 Chromosome 2, 237359390: 237359390
516 COL6A3 NM_004369.3(COL6A3): c.7359G> A (p.Glu2453=) single nucleotide variant Benign/Likely benign rs114199044 GRCh37 Chromosome 2, 238253302: 238253302
517 COL6A3 NM_004369.3(COL6A3): c.7359G> A (p.Glu2453=) single nucleotide variant Benign/Likely benign rs114199044 GRCh38 Chromosome 2, 237344659: 237344659
518 COL6A3 NM_004369.3(COL6A3): c.4888C> T (p.Pro1630Ser) single nucleotide variant Uncertain significance rs145560772 GRCh38 Chromosome 2, 237368575: 237368575
519 COL6A3 NM_004369.3(COL6A3): c.4888C> T (p.Pro1630Ser) single nucleotide variant Uncertain significance rs145560772 GRCh37 Chromosome 2, 238277218: 238277218
520 COL6A2 NM_001849.3(COL6A2): c.2633C> T (p.Ala878Val) single nucleotide variant Conflicting interpretations of pathogenicity rs774521989 GRCh38 Chromosome 21, 46132125: 46132125
521 COL6A2 NM_001849.3(COL6A2): c.2633C> T (p.Ala878Val) single nucleotide variant Conflicting interpretations of pathogenicity rs774521989 GRCh37 Chromosome 21, 47552039: 47552039
522 TRMU NM_018006.4(TRMU): c.37_48dupGGCGGCGTGGAC (p.Asp16_Ser17insGlyGlyValAsp) duplication Conflicting interpretations of pathogenicity rs863224243 GRCh37 Chromosome 21, 47551999: 47552014
523 TRMU NM_018006.4(TRMU): c.37_48dupGGCGGCGTGGAC (p.Asp16_Ser17insGlyGlyValAsp) duplication Conflicting interpretations of pathogenicity rs863224243 GRCh37 Chromosome 22, 46731698: 46731709
524 TRMU NM_018006.4(TRMU): c.37_48dupGGCGGCGTGGAC (p.Asp16_Ser17insGlyGlyValAsp) duplication Conflicting interpretations of pathogenicity rs863224243 GRCh38 Chromosome 22, 46335801: 46335812
525 COL6A2 NM_001849.3(COL6A2): c.2096G> A (p.Gly699Asp) single nucleotide variant Conflicting interpretations of pathogenicity rs863224861 GRCh38 Chromosome 21, 46125911: 46125911
526 COL6A2 NM_001849.3(COL6A2): c.2096G> A (p.Gly699Asp) single nucleotide variant Conflicting interpretations of pathogenicity rs863224861 GRCh37 Chromosome 21, 47545825: 47545825
527 COL6A3 NM_004369.3(COL6A3): c.4006G> A (p.Val1336Ile) single nucleotide variant Conflicting interpretations of pathogenicity rs144051775 GRCh37 Chromosome 2, 238280654: 238280654
528 COL6A3 NM_004369.3(COL6A3): c.4006G> A (p.Val1336Ile) single nucleotide variant Conflicting interpretations of pathogenicity rs144051775 GRCh38 Chromosome 2, 237372011: 237372011
529 COL6A3 NM_004369.3(COL6A3): c.8168T> C (p.Ile2723Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs373108028 GRCh37 Chromosome 2, 238249391: 238249391
530 COL6A3 NM_004369.3(COL6A3): c.8168T> C (p.Ile2723Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs373108028 GRCh38 Chromosome 2, 237340748: 237340748
531 COL6A3 NM_004369.3(COL6A3): c.7264C> T (p.Arg2422Ter) single nucleotide variant Likely pathogenic rs878854379 GRCh37 Chromosome 2, 238253397: 238253397
532 COL6A3 NM_004369.3(COL6A3): c.7264C> T (p.Arg2422Ter) single nucleotide variant Likely pathogenic rs878854379 GRCh38 Chromosome 2, 237344754: 237344754
533 COL6A1 NM_001848.2(COL6A1): c.1425delA (p.Gly476Alafs) deletion Conflicting interpretations of pathogenicity rs878854398 GRCh38 Chromosome 21, 45997447: 45997447
534 COL6A1 NM_001848.2(COL6A1): c.1425delA (p.Gly476Alafs) deletion Conflicting interpretations of pathogenicity rs878854398 GRCh37 Chromosome 21, 47417361: 47417361
535 COL6A2 NM_001849.3(COL6A2): c.954G> T (p.Lys318Asn) single nucleotide variant Likely pathogenic rs878854362 GRCh37 Chromosome 21, 47536591: 47536591
536 COL6A2 NM_001849.3(COL6A2): c.954G> T (p.Lys318Asn) single nucleotide variant Likely pathogenic rs878854362 GRCh38 Chromosome 21, 46116677: 46116677
537 COL6A2 NM_001849.3(COL6A2): c.1358G> A (p.Arg453His) single nucleotide variant Uncertain significance rs878854386 GRCh37 Chromosome 21, 47540454: 47540454
538 COL6A2 NM_001849.3(COL6A2): c.1358G> A (p.Arg453His) single nucleotide variant Uncertain significance rs878854386 GRCh38 Chromosome 21, 46120540: 46120540
539 COL6A3 NM_004369.3(COL6A3): c.4183C> T (p.Arg1395Trp) single nucleotide variant Benign/Likely benign rs73998894 GRCh37 Chromosome 2, 238280477: 238280477
540 COL6A3 NM_004369.3(COL6A3): c.4183C> T (p.Arg1395Trp) single nucleotide variant Benign/Likely benign rs73998894 GRCh38 Chromosome 2, 237371834: 237371834
541 COL6A3 NM_004369.3(COL6A3): c.1791C> T (p.Phe597=) single nucleotide variant Benign/Likely benign rs76576170 GRCh37 Chromosome 2, 238289664: 238289664
542 COL6A3 NM_004369.3(COL6A3): c.1791C> T (p.Phe597=) single nucleotide variant Benign/Likely benign rs76576170 GRCh38 Chromosome 2, 237381021: 237381021
543 COL6A3 NM_004369.3(COL6A3): c.6064-6C> T single nucleotide variant Benign/Likely benign rs202091342 GRCh37 Chromosome 2, 238270480: 238270480
544 COL6A3 NM_004369.3(COL6A3): c.6064-6C> T single nucleotide variant Benign/Likely benign rs202091342 GRCh38 Chromosome 2, 237361837: 237361837
545 COL6A3 NM_004369.3(COL6A3): c.5820C> T (p.Ser1940=) single nucleotide variant Benign/Likely benign rs113542401 GRCh37 Chromosome 2, 238274359: 238274359
546 COL6A3 NM_004369.3(COL6A3): c.5820C> T (p.Ser1940=) single nucleotide variant Benign/Likely benign rs113542401 GRCh38 Chromosome 2, 237365716: 237365716
547 COL6A3 NM_004369.3(COL6A3): c.5139G> A (p.Gly1713=) single nucleotide variant Conflicting interpretations of pathogenicity rs114338020 GRCh37 Chromosome 2, 238275691: 238275691
548 COL6A3 NM_004369.3(COL6A3): c.5139G> A (p.Gly1713=) single nucleotide variant Conflicting interpretations of pathogenicity rs114338020 GRCh38 Chromosome 2, 237367048: 237367048
549 COL6A3 NM_004369.3(COL6A3): c.4849G> A (p.Ala1617Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs200433282 GRCh37 Chromosome 2, 238277257: 238277257
550 COL6A3 NM_004369.3(COL6A3): c.4849G> A (p.Ala1617Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs200433282 GRCh38 Chromosome 2, 237368614: 237368614
551 COL6A3 NM_004369.3(COL6A3): c.4169C> T (p.Ser1390Leu) single nucleotide variant Benign/Likely benign rs115548605 GRCh37 Chromosome 2, 238280491: 238280491
552 COL6A3 NM_004369.3(COL6A3): c.4169C> T (p.Ser1390Leu) single nucleotide variant Benign/Likely benign rs115548605 GRCh38 Chromosome 2, 237371848: 237371848
553 COL6A3 NM_004369.3(COL6A3): c.2463T> C (p.Ser821=) single nucleotide variant Benign/Likely benign rs115387170 GRCh37 Chromosome 2, 238287313: 238287313
554 COL6A3 NM_004369.3(COL6A3): c.2463T> C (p.Ser821=) single nucleotide variant Benign/Likely benign rs115387170 GRCh38 Chromosome 2, 237378670: 237378670
555 COL6A3 NM_004369.3(COL6A3): c.1056C> T (p.Leu352=) single nucleotide variant Conflicting interpretations of pathogenicity rs78365682 GRCh37 Chromosome 2, 238296481: 238296481
556 COL6A3 NM_004369.3(COL6A3): c.1056C> T (p.Leu352=) single nucleotide variant Conflicting interpretations of pathogenicity rs78365682 GRCh38 Chromosome 2, 237387838: 237387838
557 COL6A3 NM_004369.3(COL6A3): c.576G> T (p.Pro192=) single nucleotide variant Conflicting interpretations of pathogenicity rs141560881 GRCh37 Chromosome 2, 238303363: 238303363
558 COL6A3 NM_004369.3(COL6A3): c.576G> T (p.Pro192=) single nucleotide variant Conflicting interpretations of pathogenicity rs141560881 GRCh38 Chromosome 2, 237394720: 237394720
559 COL6A3 NM_004369.3(COL6A3): c.489G> A (p.Ala163=) single nucleotide variant Conflicting interpretations of pathogenicity rs148970984 GRCh37 Chromosome 2, 238303450: 238303450
560 COL6A3 NM_004369.3(COL6A3): c.489G> A (p.Ala163=) single nucleotide variant Conflicting interpretations of pathogenicity rs148970984 GRCh38 Chromosome 2, 237394807: 237394807
561 COL6A1 NM_001848.2(COL6A1): c.423C> T (p.Leu141=) single nucleotide variant Conflicting interpretations of pathogenicity rs373486149 GRCh37 Chromosome 21, 47404378: 47404378
562 COL6A1 NM_001848.2(COL6A1): c.423C> T (p.Leu141=) single nucleotide variant Conflicting interpretations of pathogenicity rs373486149 GRCh38 Chromosome 21, 45984464: 45984464
563 COL6A1 NM_001848.2(COL6A1): c.579C> T (p.Pro193=) single nucleotide variant Benign/Likely benign rs61751027 GRCh38 Chromosome 21, 45986676: 45986676
564 COL6A1 NM_001848.2(COL6A1): c.579C> T (p.Pro193=) single nucleotide variant Benign/Likely benign rs61751027 GRCh37 Chromosome 21, 47406590: 47406590
565 COL6A1 NM_001848.2(COL6A1): c.777G> A (p.Pro259=) single nucleotide variant Benign/Likely benign rs61735854 GRCh37 Chromosome 21, 47407541: 47407541
566 COL6A1 NM_001848.2(COL6A1): c.777G> A (p.Pro259=) single nucleotide variant Benign/Likely benign rs61735854 GRCh38 Chromosome 21, 45987627: 45987627
567 COL6A1 NM_001848.2(COL6A1): c.993C> T (p.Asp331=) single nucleotide variant Conflicting interpretations of pathogenicity rs373948031 GRCh37 Chromosome 21, 47410327: 47410327
568 COL6A1 NM_001848.2(COL6A1): c.993C> T (p.Asp331=) single nucleotide variant Conflicting interpretations of pathogenicity rs373948031 GRCh38 Chromosome 21, 45990413: 45990413
569 COL6A1 NM_001848.2(COL6A1): c.1506G> C (p.Pro502=) single nucleotide variant Benign/Likely benign rs139987124 GRCh38 Chromosome 21, 45997744: 45997744
570 COL6A1 NM_001848.2(COL6A1): c.1506G> C (p.Pro502=) single nucleotide variant Benign/Likely benign rs139987124 GRCh37 Chromosome 21, 47417658: 47417658
571 COL6A1 NM_001848.2(COL6A1): c.1584G> A (p.Pro528=) single nucleotide variant Conflicting interpretations of pathogenicity rs139243418 GRCh38 Chromosome 21, 45998406: 45998406
572 COL6A1 NM_001848.2(COL6A1): c.1584G> A (p.Pro528=) single nucleotide variant Conflicting interpretations of pathogenicity rs139243418 GRCh37 Chromosome 21, 47418320: 47418320
573 COL6A1 NM_001848.2(COL6A1): c.2709C> T (p.Ala903=) single nucleotide variant Conflicting interpretations of pathogenicity rs139018148 GRCh38 Chromosome 21, 46003635: 46003635
574 COL6A1 NM_001848.2(COL6A1): c.2709C> T (p.Ala903=) single nucleotide variant Conflicting interpretations of pathogenicity rs139018148 GRCh37 Chromosome 21, 47423549: 47423549
575 COL6A2 NM_001849.3(COL6A2): c.528G> A (p.Gln176=) single nucleotide variant Benign/Likely benign rs377585812 GRCh38 Chromosome 21, 46112391: 46112391
576 COL6A2 NM_001849.3(COL6A2): c.528G> A (p.Gln176=) single nucleotide variant Benign/Likely benign rs377585812 GRCh37 Chromosome 21, 47532305: 47532305
577 COL6A2 NM_001849.3(COL6A2): c.1466G> A (p.Arg489Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs61735828 GRCh38 Chromosome 21, 46121563: 46121563
578 COL6A2 NM_001849.3(COL6A2): c.1466G> A (p.Arg489Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs61735828 GRCh37 Chromosome 21, 47541477: 47541477
579 COL6A2 NM_001849.3(COL6A2): c.2600G> A (p.Arg867Gln) single nucleotide variant Likely benign rs61735831 GRCh37 Chromosome 21, 47552006: 47552006
580 COL6A2 NM_001849.3(COL6A2): c.2600G> A (p.Arg867Gln) single nucleotide variant Likely benign rs61735831 GRCh38 Chromosome 21, 46132092: 46132092
581 COL6A2 NM_001849.3(COL6A2): c.2607C> T (p.Asp869=) single nucleotide variant Likely benign rs150219725 GRCh37 Chromosome 21, 47552013: 47552013
582 COL6A2 NM_001849.3(COL6A2): c.2607C> T (p.Asp869=) single nucleotide variant Likely benign rs150219725 GRCh38 Chromosome 21, 46132099: 46132099
583 COL6A2 NM_001849.3(COL6A2): c.1970-9G> A single nucleotide variant Conflicting interpretations of pathogenicity rs747900252 GRCh37 Chromosome 21, 47545690: 47545690
584 COL6A2 NM_001849.3(COL6A2): c.1970-9G> A single nucleotide variant Conflicting interpretations of pathogenicity rs747900252 GRCh38 Chromosome 21, 46125776: 46125776
585 COL6A2 NM_001849.3(COL6A2): c.2894G> C (p.Arg965Pro) single nucleotide variant Conflicting interpretations of pathogenicity rs201854898 GRCh37 Chromosome 21, 47552300: 47552300
586 COL6A2 NM_001849.3(COL6A2): c.2894G> C (p.Arg965Pro) single nucleotide variant Conflicting interpretations of pathogenicity rs201854898 GRCh38 Chromosome 21, 46132386: 46132386
587 COL6A3 NM_004369.3(COL6A3): c.3844G> A (p.Val1282Met) single nucleotide variant Conflicting interpretations of pathogenicity rs535661345 GRCh37 Chromosome 2, 238280816: 238280816
588 COL6A3 NM_004369.3(COL6A3): c.3844G> A (p.Val1282Met) single nucleotide variant Conflicting interpretations of pathogenicity rs535661345 GRCh38 Chromosome 2, 237372173: 237372173
589 COL6A1 NM_001848.2(COL6A1): c.1298G> A (p.Arg433Gln) single nucleotide variant Benign/Likely benign rs151158105 GRCh37 Chromosome 21, 47412687: 47412687
590 COL6A1 NM_001848.2(COL6A1): c.1298G> A (p.Arg433Gln) single nucleotide variant Benign/Likely benign rs151158105 GRCh38 Chromosome 21, 45992773: 45992773
591 COL6A2 NM_001849.3(COL6A2): c.2599C> T (p.Arg867Trp) single nucleotide variant Likely benign rs144484744 GRCh37 Chromosome 21, 47552005: 47552005
592 COL6A2 NM_001849.3(COL6A2): c.2599C> T (p.Arg867Trp) single nucleotide variant Likely benign rs144484744 GRCh38 Chromosome 21, 46132091: 46132091
593 COL6A3 NM_004369.3(COL6A3): c.6618C> T (p.Pro2206=) single nucleotide variant Benign/Likely benign rs201814201 GRCh37 Chromosome 2, 238263551: 238263551
594 COL6A3 NM_004369.3(COL6A3): c.6618C> T (p.Pro2206=) single nucleotide variant Benign/Likely benign rs201814201 GRCh38 Chromosome 2, 237354908: 237354908
595 COL6A2 NM_001849.3(COL6A2): c.1614C> T (p.Gly538=) single nucleotide variant Benign/Likely benign rs147194375 GRCh37 Chromosome 21, 47542794: 47542794
596 COL6A2 NM_001849.3(COL6A2): c.1614C> T (p.Gly538=) single nucleotide variant Benign/Likely benign rs147194375 GRCh38 Chromosome 21, 46122880: 46122880
597 COL6A3 NM_004369.3(COL6A3): c.7173C> T (p.Tyr2391=) single nucleotide variant Uncertain significance rs114248590 GRCh37 Chromosome 2, 238253585: 238253585
598 COL6A3 NM_004369.3(COL6A3): c.7173C> T (p.Tyr2391=) single nucleotide variant Uncertain significance rs114248590 GRCh38 Chromosome 2, 237344942: 237344942
599 COL6A3 NM_004369.3(COL6A3): c.5833G> C (p.Val1945Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs113332380 GRCh37 Chromosome 2, 238274346: 238274346
600 COL6A3 NM_004369.3(COL6A3): c.5833G> C (p.Val1945Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs113332380 GRCh38 Chromosome 2, 237365703: 237365703
601 COL6A1 NM_001848.2(COL6A1): c.2637C> T (p.Ser879=) single nucleotide variant Conflicting interpretations of pathogenicity rs540554122 GRCh37 Chromosome 21, 47423477: 47423477
602 COL6A1 NM_001848.2(COL6A1): c.2637C> T (p.Ser879=) single nucleotide variant Conflicting interpretations of pathogenicity rs540554122 GRCh38 Chromosome 21, 46003563: 46003563
603 COL6A3 NM_004369.3(COL6A3): c.1120G> A (p.Val374Met) single nucleotide variant Uncertain significance rs780353083 GRCh37 Chromosome 2, 238296417: 238296417
604 COL6A3 NM_004369.3(COL6A3): c.1120G> A (p.Val374Met) single nucleotide variant Uncertain significance rs780353083 GRCh38 Chromosome 2, 237387774: 237387774
605 COL6A2 NM_001849.3(COL6A2): c.2960C> T (p.Thr987Met) single nucleotide variant Uncertain significance rs199955442 GRCh37 Chromosome 21, 47552366: 47552366
606 COL6A2 NM_001849.3(COL6A2): c.2960C> T (p.Thr987Met) single nucleotide variant Uncertain significance rs199955442 GRCh38 Chromosome 21, 46132452: 46132452
607 COL6A2 NM_001849.3(COL6A2): c.2935G> A (p.Asp979Asn) single nucleotide variant Uncertain significance rs141579198 GRCh37 Chromosome 21, 47552341: 47552341
608 COL6A2 NM_001849.3(COL6A2): c.2935G> A (p.Asp979Asn) single nucleotide variant Uncertain significance rs141579198 GRCh38 Chromosome 21, 46132427: 46132427
609 COL6A1 NM_001848.2(COL6A1): c.997G> A (p.Val333Met) single nucleotide variant Likely benign rs201525908 GRCh37 Chromosome 21, 47410331: 47410331
610 COL6A1 NM_001848.2(COL6A1): c.997G> A (p.Val333Met) single nucleotide variant Likely benign rs201525908 GRCh38 Chromosome 21, 45990417: 45990417
611 COL6A2 NM_001849.3(COL6A2): c.1496G> A (p.Gly499Glu) single nucleotide variant Conflicting interpretations of pathogenicity rs886042332 GRCh37 Chromosome 21, 47541507: 47541507
612 COL6A2 NM_001849.3(COL6A2): c.1496G> A (p.Gly499Glu) single nucleotide variant Conflicting interpretations of pathogenicity rs886042332 GRCh38 Chromosome 21, 46121593: 46121593
613 COL6A2 NM_001849.3(COL6A2): c.2810G> A (p.Arg937Gln) single nucleotide variant Uncertain significance rs777354703 GRCh37 Chromosome 21, 47552216: 47552216
614 COL6A2 NM_001849.3(COL6A2): c.2810G> A (p.Arg937Gln) single nucleotide variant Uncertain significance rs777354703 GRCh38 Chromosome 21, 46132302: 46132302
615 COL6A2 NM_001849.3(COL6A2): c.511G> A (p.Gly171Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs200710788 GRCh37 Chromosome 21, 47532288: 47532288
616 COL6A2 NM_001849.3(COL6A2): c.511G> A (p.Gly171Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs200710788 GRCh38 Chromosome 21, 46112374: 46112374
617 COL6A3 NM_004369.3(COL6A3): c.5953G> A (p.Val1985Met) single nucleotide variant Uncertain significance rs200478135 GRCh37 Chromosome 2, 238272006: 238272006
618 COL6A3 NM_004369.3(COL6A3): c.5953G> A (p.Val1985Met) single nucleotide variant Uncertain significance rs200478135 GRCh38 Chromosome 2, 237363363: 237363363
619 COL6A2 NM_001849.3(COL6A2): c.138C> T (p.His46=) single nucleotide variant Benign/Likely benign rs201753549 GRCh37 Chromosome 21, 47531915: 47531915
620 COL6A2 NM_001849.3(COL6A2): c.138C> T (p.His46=) single nucleotide variant Benign/Likely benign rs201753549 GRCh38 Chromosome 21, 46112001: 46112001
621 COL6A3 NM_004369.3(COL6A3): c.958G> A (p.Ala320Thr) single nucleotide variant Likely benign rs115819851 GRCh37 Chromosome 2, 238296579: 238296579
622 COL6A3 NM_004369.3(COL6A3): c.958G> A (p.Ala320Thr) single nucleotide variant Likely benign rs115819851 GRCh38 Chromosome 2, 237387936: 237387936
623 COL6A3 NM_004369.3(COL6A3): c.5010T> A (p.Tyr1670Ter) single nucleotide variant Pathogenic rs886042402 GRCh37 Chromosome 2, 238275820: 238275820
624 COL6A3 NM_004369.3(COL6A3): c.5010T> A (p.Tyr1670Ter) single nucleotide variant Pathogenic rs886042402 GRCh38 Chromosome 2, 237367177: 237367177
625 COL6A2 NM_001849.3(COL6A2): c.169G> A (p.Val57Ile) single nucleotide variant Uncertain significance rs768434256 GRCh37 Chromosome 21, 47531946: 47531946
626 COL6A2 NM_001849.3(COL6A2): c.169G> A (p.Val57Ile) single nucleotide variant Uncertain significance rs768434256 GRCh38 Chromosome 21, 46112032: 46112032
627 COL6A3 NM_004369.3(COL6A3): c.7113C> T (p.Gly2371=) single nucleotide variant Conflicting interpretations of pathogenicity rs375729592 GRCh37 Chromosome 2, 238253836: 238253836
628 COL6A3 NM_004369.3(COL6A3): c.7113C> T (p.Gly2371=) single nucleotide variant Conflicting interpretations of pathogenicity rs375729592 GRCh38 Chromosome 2, 237345193: 237345193
629 COL6A1 NM_001848.2(COL6A1): c.1122C> T (p.Gly374=) single nucleotide variant Uncertain significance rs373535692 GRCh37 Chromosome 21, 47411926: 47411926
630 COL6A1 NM_001848.2(COL6A1): c.1122C> T (p.Gly374=) single nucleotide variant Uncertain significance rs373535692 GRCh38 Chromosome 21, 45992012: 45992012
631 COL6A2 NM_001849.3(COL6A2): c.1130G> A (p.Arg377His) single nucleotide variant Uncertain significance rs148552966 GRCh37 Chromosome 21, 47538541: 47538541
632 COL6A2 NM_001849.3(COL6A2): c.1130G> A (p.Arg377His) single nucleotide variant Uncertain significance rs148552966 GRCh38 Chromosome 21, 46118627: 46118627
633 COL6A2 NM_001849.3(COL6A2): c.638G> A (p.Arg213His) single nucleotide variant Uncertain significance rs368064647 GRCh37 Chromosome 21, 47532415: 47532415
634 COL6A2 NM_001849.3(COL6A2): c.638G> A (p.Arg213His) single nucleotide variant Uncertain significance rs368064647 GRCh38 Chromosome 21, 46112501: 46112501
635 COL6A1 NM_001848.2(COL6A1): c.1022G> T (p.Gly341Val) single nucleotide variant Pathogenic rs121912935 GRCh37 Chromosome 21, 47410706: 47410706
636 COL6A1 NM_001848.2(COL6A1): c.1022G> T (p.Gly341Val) single nucleotide variant Pathogenic rs121912935 GRCh38 Chromosome 21, 45990792: 45990792
637 COL6A1 NM_001848.2(COL6A1): c.1829A> C (p.Lys610Thr) single nucleotide variant Uncertain significance rs768906709 GRCh37 Chromosome 21, 47421173: 47421173
638 COL6A1 NM_001848.2(COL6A1): c.1829A> C (p.Lys610Thr) single nucleotide variant Uncertain significance rs768906709 GRCh38 Chromosome 21, 46001259: 46001259
639 COL6A1 NM_001848.2(COL6A1): c.996C> T (p.Gly332=) single nucleotide variant Conflicting interpretations of pathogenicity rs11702055 GRCh37 Chromosome 21, 47410330: 47410330
640 COL6A1 NM_001848.2(COL6A1): c.996C> T (p.Gly332=) single nucleotide variant Conflicting interpretations of pathogenicity rs11702055 GRCh38 Chromosome 21, 45990416: 45990416
641 COL6A3 NM_004369.3(COL6A3): c.759C> T (p.Thr253=) single nucleotide variant Conflicting interpretations of pathogenicity rs376087730 GRCh37 Chromosome 2, 238296778: 238296778
642 COL6A3 NM_004369.3(COL6A3): c.759C> T (p.Thr253=) single nucleotide variant Conflicting interpretations of pathogenicity rs376087730 GRCh38 Chromosome 2, 237388135: 237388135
643 COL6A3 NM_004369.3(COL6A3): c.3902G> A (p.Arg1301Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs148038440 GRCh37 Chromosome 2, 238280758: 238280758
644 COL6A3 NM_004369.3(COL6A3): c.3902G> A (p.Arg1301Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs148038440 GRCh38 Chromosome 2, 237372115: 237372115
645 COL6A3 NM_004369.3(COL6A3): c.5839-3C> T single nucleotide variant Conflicting interpretations of pathogenicity rs112825341 GRCh37 Chromosome 2, 238273074: 238273074
646 COL6A3 NM_004369.3(COL6A3): c.5839-3C> T single nucleotide variant Conflicting interpretations of pathogenicity rs112825341 GRCh38 Chromosome 2, 237364431: 237364431
647 COL6A1 NM_001848.2(COL6A1): c.1115A> G (p.Glu372Gly) single nucleotide variant Conflicting interpretations of pathogenicity rs149338158 GRCh37 Chromosome 21, 47410951: 47410951
648 COL6A1 NM_001848.2(COL6A1): c.1115A> G (p.Glu372Gly) single nucleotide variant Conflicting interpretations of pathogenicity rs149338158 GRCh38 Chromosome 21, 45991037: 45991037
649 COL6A1 NM_001848.2(COL6A1): c.2595G> A (p.Thr865=) single nucleotide variant Conflicting interpretations of pathogenicity rs367832752 GRCh37 Chromosome 21, 47423435: 47423435
650 COL6A1 NM_001848.2(COL6A1): c.2595G> A (p.Thr865=) single nucleotide variant Conflicting interpretations of pathogenicity rs367832752 GRCh38 Chromosome 21, 46003521: 46003521
651 COL6A3 NM_004369.3(COL6A3): c.2864G> A (p.Arg955His) single nucleotide variant Uncertain significance rs112172548 GRCh37 Chromosome 2, 238285621: 238285621
652 COL6A3 NM_004369.3(COL6A3): c.2864G> A (p.Arg955His) single nucleotide variant Uncertain significance rs112172548 GRCh38 Chromosome 2, 237376978: 237376978
653 COL6A1 NM_001848.2(COL6A1): c.539A> G (p.Lys180Arg) single nucleotide variant Uncertain significance rs756141940 GRCh37 Chromosome 21, 47406550: 47406550
654 COL6A1 NM_001848.2(COL6A1): c.539A> G (p.Lys180Arg) single nucleotide variant Uncertain significance rs756141940 GRCh38 Chromosome 21, 45986636: 45986636
655 COL6A3 NM_004369.3(COL6A3): c.6930+4C> T single nucleotide variant Conflicting interpretations of pathogenicity rs375657891 GRCh37 Chromosome 2, 238257252: 238257252
656 COL6A3 NM_004369.3(COL6A3): c.6930+4C> T single nucleotide variant Conflicting interpretations of pathogenicity rs375657891 GRCh38 Chromosome 2, 237348609: 237348609
657 COL6A3 NM_004369.3(COL6A3): c.7953G> A (p.Met2651Ile) single nucleotide variant Conflicting interpretations of pathogenicity rs369537287 GRCh37 Chromosome 2, 238249606: 238249606
658 COL6A3 NM_004369.3(COL6A3): c.7953G> A (p.Met2651Ile) single nucleotide variant Conflicting interpretations of pathogenicity rs369537287 GRCh38 Chromosome 2, 237340963: 237340963
659 COL6A2 NM_001849.3(COL6A2): c.1572+3G> A single nucleotide variant Benign/Likely benign rs372414400 GRCh37 Chromosome 21, 47542075: 47542075
660 COL6A2 NM_001849.3(COL6A2): c.1572+3G> A single nucleotide variant Benign/Likely benign rs372414400 GRCh38 Chromosome 21, 46122161: 46122161
661 COL6A1 NM_001848.2(COL6A1): c.1908C> G (p.Asp636Glu) single nucleotide variant Uncertain significance rs886042572 GRCh37 Chromosome 21, 47421252: 47421252
662 COL6A1 NM_001848.2(COL6A1): c.1908C> G (p.Asp636Glu) single nucleotide variant Uncertain significance rs886042572 GRCh38 Chromosome 21, 46001338: 46001338
663 COL6A3 NM_004369.3(COL6A3): c.8804C> T (p.Ala2935Val) single nucleotide variant Likely benign rs36020669 GRCh37 Chromosome 2, 238244939: 238244939
664 COL6A3 NM_004369.3(COL6A3): c.8804C> T (p.Ala2935Val) single nucleotide variant Likely benign rs36020669 GRCh38 Chromosome 2, 237336296: 237336296
665 COL6A2 NM_001849.3(COL6A2): c.2893C> T (p.Arg965Cys) single nucleotide variant Uncertain significance rs201188174 GRCh37 Chromosome 21, 47552299: 47552299
666 COL6A2 NM_001849.3(COL6A2): c.2893C> T (p.Arg965Cys) single nucleotide variant Uncertain significance rs201188174 GRCh38 Chromosome 21, 46132385: 46132385
667 COL6A2 NM_001849.3(COL6A2): c.828G> A (p.Pro276=) single nucleotide variant Conflicting interpretations of pathogenicity rs140790797 GRCh37 Chromosome 21, 47535812: 47535812
668 COL6A2 NM_001849.3(COL6A2): c.828G> A (p.Pro276=) single nucleotide variant Conflicting interpretations of pathogenicity rs140790797 GRCh38 Chromosome 21, 46115898: 46115898
669 COL6A3 NM_004369.3(COL6A3): c.936C> T (p.Leu312=) single nucleotide variant Conflicting interpretations of pathogenicity rs377629176 GRCh37 Chromosome 2, 238296601: 238296601
670 COL6A3 NM_004369.3(COL6A3): c.936C> T (p.Leu312=) single nucleotide variant Conflicting interpretations of pathogenicity rs377629176 GRCh38 Chromosome 2, 237387958: 237387958
671 COL6A1 NM_001848.2(COL6A1): c.2622G> A (p.Ala874=) single nucleotide variant Benign/Likely benign rs371763977 GRCh37 Chromosome 21, 47423462: 47423462
672 COL6A1 NM_001848.2(COL6A1): c.2622G> A (p.Ala874=) single nucleotide variant Benign/Likely benign rs371763977 GRCh38 Chromosome 21, 46003548: 46003548
673 COL6A1 NM_001848.2(COL6A1): c.98-6G> A single nucleotide variant Uncertain significance rs886042599 GRCh37 Chromosome 21, 47402542: 47402542
674 COL6A1 NM_001848.2(COL6A1): c.98-6G> A single nucleotide variant Uncertain significance rs886042599 GRCh38 Chromosome 21, 45982628: 45982628
675 COL6A2 NM_001849.3(COL6A2): c.1685C> T (p.Pro562Leu) single nucleotide variant Uncertain significance rs370775804 GRCh37 Chromosome 21, 47544578: 47544578
676 COL6A2 NM_001849.3(COL6A2): c.1685C> T (p.Pro562Leu) single nucleotide variant Uncertain significance rs370775804 GRCh38 Chromosome 21, 46124664: 46124664
677 COL6A3 NM_004369.3(COL6A3): c.9209A> G (p.Tyr3070Cys) single nucleotide variant Uncertain significance rs368568929 GRCh37 Chromosome 2, 238243289: 238243289
678 COL6A3 NM_004369.3(COL6A3): c.9209A> G (p.Tyr3070Cys) single nucleotide variant Uncertain significance rs368568929 GRCh38 Chromosome 2, 237334646: 237334646
679 COL6A2 NM_001849.3(COL6A2): c.1215T> C (p.Pro405=) single nucleotide variant Benign/Likely benign rs558981930 GRCh37 Chromosome 21, 47538979: 47538979
680 COL6A2 NM_001849.3(COL6A2): c.1215T> C (p.Pro405=) single nucleotide variant Benign/Likely benign rs558981930 GRCh38 Chromosome 21, 46119065: 46119065
681 COL6A3 NM_004369.3(COL6A3): c.9451A> G (p.Lys3151Glu) single nucleotide variant Uncertain significance rs371468515 GRCh37 Chromosome 2, 238234245: 238234245
682 COL6A3 NM_004369.3(COL6A3): c.9451A> G (p.Lys3151Glu) single nucleotide variant Uncertain significance rs371468515 GRCh38 Chromosome 2, 237325602: 237325602
683 COL6A1 NM_001848.2(COL6A1): c.2875G> A (p.Val959Met) single nucleotide variant Conflicting interpretations of pathogenicity rs200959957 GRCh37 Chromosome 21, 47423715: 47423715
684 COL6A1 NM_001848.2(COL6A1): c.2875G> A (p.Val959Met) single nucleotide variant Conflicting interpretations of pathogenicity rs200959957 GRCh38 Chromosome 21, 46003801: 46003801
685 COL6A3 NM_004369.3(COL6A3): c.1623C> T (p.Ala541=) single nucleotide variant Conflicting interpretations of pathogenicity rs114144694 GRCh37 Chromosome 2, 238289832: 238289832
686 COL6A3 NM_004369.3(COL6A3): c.1623C> T (p.Ala541=) single nucleotide variant Conflicting interpretations of pathogenicity rs114144694 GRCh38 Chromosome 2, 237381189: 237381189
687 COL6A3 NM_004369.3(COL6A3): c.8458G> A (p.Val2820Ile) single nucleotide variant Benign/Likely benign rs115171119 GRCh37 Chromosome 2, 238249101: 238249101
688 COL6A3 NM_004369.3(COL6A3): c.8458G> A (p.Val2820Ile) single nucleotide variant Benign/Likely benign rs115171119 GRCh38 Chromosome 2, 237340458: 237340458
689 COL6A2 NM_001849.3(COL6A2): c.2798G> A (p.Arg933His) single nucleotide variant Uncertain significance rs374384263 GRCh37 Chromosome 21, 47552204: 47552204
690 COL6A2 NM_001849.3(COL6A2): c.2798G> A (p.Arg933His) single nucleotide variant Uncertain significance rs374384263 GRCh38 Chromosome 21, 46132290: 46132290
691 COL6A1 NM_001848.2(COL6A1): c.1603G> A (p.Gly535Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs764556767 GRCh37 Chromosome 21, 47418339: 47418339
692 COL6A1 NM_001848.2(COL6A1): c.1603G> A (p.Gly535Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs764556767 GRCh38 Chromosome 21, 45998425: 45998425
693 COL6A3 NM_004369.3(COL6A3): c.8978G> A (p.Arg2993His) single nucleotide variant Conflicting interpretations of pathogenicity rs201888442 GRCh37 Chromosome 2, 238243520: 238243520
694 COL6A3 NM_004369.3(COL6A3): c.8978G> A (p.Arg2993His) single nucleotide variant Conflicting interpretations of pathogenicity rs201888442 GRCh38 Chromosome 2, 237334877: 237334877
695 COL6A1 NM_001848.2(COL6A1): c.666C> T (p.Arg222=) single nucleotide variant Conflicting interpretations of pathogenicity rs372581026 GRCh37 Chromosome 21, 47406935: 47406935
696 COL6A1 NM_001848.2(COL6A1): c.666C> T (p.Arg222=) single nucleotide variant Conflicting interpretations of pathogenicity rs372581026 GRCh38 Chromosome 21, 45987021: 45987021
697 COL6A1 NM_001848.2(COL6A1): c.763G> A (p.Ala255Thr) single nucleotide variant Uncertain significance rs145473829 GRCh37 Chromosome 21, 47407527: 47407527
698 COL6A1 NM_001848.2(COL6A1): c.763G> A (p.Ala255Thr) single nucleotide variant Uncertain significance rs145473829 GRCh38 Chromosome 21, 45987613: 45987613
699 COL6A1 NM_001848.2(COL6A1): c.1611+1G> A single nucleotide variant Pathogenic rs886042748 GRCh37 Chromosome 21, 47418348: 47418348
700 COL6A1 NM_001848.2(COL6A1): c.1611+1G> A single nucleotide variant Pathogenic rs886042748 GRCh38 Chromosome 21, 45998434: 45998434
701 COL6A1 NM_001848.2(COL6A1): c.623C> T (p.Thr208Met) single nucleotide variant Uncertain significance rs372199631 GRCh37 Chromosome 21, 47406892: 47406892
702 COL6A1 NM_001848.2(COL6A1): c.623C> T (p.Thr208Met) single nucleotide variant Uncertain significance rs372199631 GRCh38 Chromosome 21, 45986978: 45986978
703 COL6A3 NM_004369.3(COL6A3): c.8636C> T (p.Thr2879Met) single nucleotide variant Conflicting interpretations of pathogenicity rs150907698 GRCh37 Chromosome 2, 238245107: 238245107
704 COL6A3 NM_004369.3(COL6A3): c.8636C> T (p.Thr2879Met) single nucleotide variant Conflicting interpretations of pathogenicity rs150907698 GRCh38 Chromosome 2, 237336464: 237336464
705 COL6A1 NM_001848.2(COL6A1): c.1043C> T (p.Ser348Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs142882745 GRCh37 Chromosome 21, 47410727: 47410727
706 COL6A1 NM_001848.2(COL6A1): c.1043C> T (p.Ser348Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs142882745 GRCh38 Chromosome 21, 45990813: 45990813
707 COL6A3 NM_004369.3(COL6A3): c.3199G> A (p.Val1067Met) single nucleotide variant Uncertain significance rs148175795 GRCh37 Chromosome 2, 238283535: 238283535
708 COL6A3 NM_004369.3(COL6A3): c.3199G> A (p.Val1067Met) single nucleotide variant Uncertain significance rs148175795 GRCh38 Chromosome 2, 237374892: 237374892
709 COL6A3 NM_004369.3(COL6A3): c.8966-3C> A single nucleotide variant Uncertain significance rs190667494 GRCh37 Chromosome 2, 238243535: 238243535
710 COL6A3 NM_004369.3(COL6A3): c.8966-3C> A single nucleotide variant Uncertain significance rs190667494 GRCh38 Chromosome 2, 237334892: 237334892
711 COL6A1 NM_001848.2(COL6A1): c.356C> T (p.Ala119Val) single nucleotide variant Uncertain significance rs571641824 GRCh37 Chromosome 21, 47404311: 47404311
712 COL6A1 NM_001848.2(COL6A1): c.356C> T (p.Ala119Val) single nucleotide variant Uncertain significance rs571641824 GRCh38 Chromosome 21, 45984397: 45984397
713 COL6A1 NM_001848.2(COL6A1): c.2554G> C (p.Ala852Pro) single nucleotide variant Uncertain significance rs748327110 GRCh37 Chromosome 21, 47423394: 47423394
714 COL6A1 NM_001848.2(COL6A1): c.2554G> C (p.Ala852Pro) single nucleotide variant Uncertain significance rs748327110 GRCh38 Chromosome 21, 46003480: 46003480
715 COL6A3 NM_004369.3(COL6A3): c.3852C> A (p.Phe1284Leu) single nucleotide variant Uncertain significance rs148561729 GRCh37 Chromosome 2, 238280808: 238280808
716 COL6A3 NM_004369.3(COL6A3): c.3852C> A (p.Phe1284Leu) single nucleotide variant Uncertain significance rs148561729 GRCh38 Chromosome 2, 237372165: 237372165
717 COL6A3 NM_004369.3(COL6A3): c.3699C> T (p.Asp1233=) single nucleotide variant Conflicting interpretations of pathogenicity rs542411896 GRCh37 Chromosome 2, 238280961: 238280961
718 COL6A3 NM_004369.3(COL6A3): c.3699C> T (p.Asp1233=) single nucleotide variant Conflicting interpretations of pathogenicity rs542411896 GRCh38 Chromosome 2, 237372318: 237372318
719 COL6A1 NM_001848.2(COL6A1): c.1602C> T (p.Pro534=) single nucleotide variant Conflicting interpretations of pathogenicity rs143755280 GRCh37 Chromosome 21, 47418338: 47418338
720 COL6A1 NM_001848.2(COL6A1): c.1602C> T (p.Pro534=) single nucleotide variant Conflicting interpretations of pathogenicity rs143755280 GRCh38 Chromosome 21, 45998424: 45998424
721 COL6A1 NM_001848.2(COL6A1): c.325G> A (p.Gly109Ser) single nucleotide variant Uncertain significance rs368580280 GRCh37 Chromosome 21, 47404280: 47404280
722 COL6A1 NM_001848.2(COL6A1): c.325G> A (p.Gly109Ser) single nucleotide variant Uncertain significance rs368580280 GRCh38 Chromosome 21, 45984366: 45984366
723 COL6A2 NM_001849.3(COL6A2): c.1489C> A (p.Pro497Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs75581470 GRCh37 Chromosome 21, 47541500: 47541500
724 COL6A2 NM_001849.3(COL6A2): c.1489C> A (p.Pro497Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs75581470 GRCh38 Chromosome 21, 46121586: 46121586
725 COL6A3 NM_004369.3(COL6A3): c.7375C> T (p.Arg2459Trp) single nucleotide variant Uncertain significance rs371066956 GRCh37 Chromosome 2, 238253286: 238253286
726 COL6A3 NM_004369.3(COL6A3): c.7375C> T (p.Arg2459Trp) single nucleotide variant Uncertain significance rs371066956 GRCh38 Chromosome 2, 237344643: 237344643
727 COL6A1 NM_001848.2(COL6A1): c.285C> G (p.Asp95Glu) single nucleotide variant Uncertain significance rs145811554 GRCh37 Chromosome 21, 47404240: 47404240
728 COL6A1 NM_001848.2(COL6A1): c.285C> G (p.Asp95Glu) single nucleotide variant Uncertain significance rs145811554 GRCh38 Chromosome 21, 45984326: 45984326
729 COL6A3 NM_004369.3(COL6A3): c.6898G> A (p.Gly2300Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs763348222 GRCh37 Chromosome 2, 238257288: 238257288
730 COL6A3 NM_004369.3(COL6A3): c.6898G> A (p.Gly2300Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs763348222 GRCh38 Chromosome 2, 237348645: 237348645
731 COL6A2 NM_001849.3(COL6A2): c.581A> G (p.Gln194Arg) single nucleotide variant Uncertain significance rs113509166 GRCh37 Chromosome 21, 47532358: 47532358
732 COL6A2 NM_001849.3(COL6A2): c.581A> G (p.Gln194Arg) single nucleotide variant Uncertain significance rs113509166 GRCh38 Chromosome 21, 46112444: 46112444
733 COL6A2 NM_001849.3(COL6A2): c.2197G> A (p.Gly733Arg) single nucleotide variant Uncertain significance rs886042922 GRCh37 Chromosome 21, 47545926: 47545926
734 COL6A2 NM_001849.3(COL6A2): c.2197G> A (p.Gly733Arg) single nucleotide variant Uncertain significance rs886042922 GRCh38 Chromosome 21, 46126012: 46126012
735 COL6A2 NM_001849.3(COL6A2): c.785G> A (p.Gly262Asp) single nucleotide variant Pathogenic rs886042943 GRCh37 Chromosome 21, 47533971: 47533971
736 COL6A2 NM_001849.3(COL6A2): c.785G> A (p.Gly262Asp) single nucleotide variant Pathogenic rs886042943 GRCh38 Chromosome 21, 46114057: 46114057
737 COL6A3 NM_004369.3(COL6A3): c.3445C> T (p.Arg1149Trp) single nucleotide variant Conflicting interpretations of pathogenicity rs113360085 GRCh37 Chromosome 2, 238283289: 238283289
738 COL6A3 NM_004369.3(COL6A3): c.3445C> T (p.Arg1149Trp) single nucleotide variant Conflicting interpretations of pathogenicity rs113360085 GRCh38 Chromosome 2, 237374646: 237374646
739 COL6A2 NM_001849.3(COL6A2): c.672C> T (p.Thr224=) single nucleotide variant Conflicting interpretations of pathogenicity rs759388890 GRCh37 Chromosome 21, 47532449: 47532449
740 COL6A2 NM_001849.3(COL6A2): c.672C> T (p.Thr224=) single nucleotide variant Conflicting interpretations of pathogenicity rs759388890 GRCh38 Chromosome 21, 46112535: 46112535
741 COL6A3 NM_004369.3(COL6A3): c.6193G> C (p.Gly2065Arg) single nucleotide variant Pathogenic/Likely pathogenic rs397515332 GRCh37 Chromosome 2, 238269781: 238269781
742 COL6A3 NM_004369.3(COL6A3): c.6193G> C (p.Gly2065Arg) single nucleotide variant Pathogenic/Likely pathogenic rs397515332 GRCh38 Chromosome 2, 237361138: 237361138
743 COL6A3 NM_004369.3(COL6A3): c.7749G> A (p.Thr2583=) single nucleotide variant Conflicting interpretations of pathogenicity rs758582935 GRCh37 Chromosome 2, 238250724: 238250724
744 COL6A3 NM_004369.3(COL6A3): c.7749G> A (p.Thr2583=) single nucleotide variant Conflicting interpretations of pathogenicity rs758582935 GRCh38 Chromosome 2, 237342081: 237342081
745 COL6A2 NM_001849.3(COL6A2): c.2661G> A (p.Glu887=) single nucleotide variant Conflicting interpretations of pathogenicity rs148249892 GRCh37 Chromosome 21, 47552067: 47552067
746 COL6A2 NM_001849.3(COL6A2): c.2661G> A (p.Glu887=) single nucleotide variant Conflicting interpretations of pathogenicity rs148249892 GRCh38 Chromosome 21, 46132153: 46132153
747 COL6A1 NM_001848.2(COL6A1): c.717+4A> G single nucleotide variant Conflicting interpretations of pathogenicity rs762867111 GRCh37 Chromosome 21, 47406990: 47406990
748 COL6A1 NM_001848.2(COL6A1): c.717+4A> G single nucleotide variant Conflicting interpretations of pathogenicity rs762867111 GRCh38 Chromosome 21, 45987076: 45987076
749 COL6A1 NM_001848.2(COL6A1): c.1644C> T (p.Asp548=) single nucleotide variant Benign/Likely benign rs182425338 GRCh37 Chromosome 21, 47418843: 47418843
750 COL6A1 NM_001848.2(COL6A1): c.1644C> T (p.Asp548=) single nucleotide variant Benign/Likely benign rs182425338 GRCh38 Chromosome 21, 45998929: 45998929
751 COL6A1 NM_001848.2(COL6A1): c.1776C> T (p.Asp592=) single nucleotide variant Likely benign rs148439285 GRCh37 Chromosome 21, 47419606: 47419606
752 COL6A1 NM_001848.2(COL6A1): c.1776C> T (p.Asp592=) single nucleotide variant Likely benign rs148439285 GRCh38 Chromosome 21, 45999692: 45999692
753 COL6A2 NM_001849.3(COL6A2): c.981C> T (p.Asn327=) single nucleotide variant Conflicting interpretations of pathogenicity rs768836349 GRCh37 Chromosome 21, 47536710: 47536710
754 COL6A2 NM_001849.3(COL6A2): c.981C> T (p.Asn327=) single nucleotide variant Conflicting interpretations of pathogenicity rs768836349 GRCh38 Chromosome 21, 46116796: 46116796
755 COL6A3 NM_004369.3(COL6A3): c.3499A> T (p.Ile1167Phe) single nucleotide variant Uncertain significance rs886042996 GRCh37 Chromosome 2, 238283235: 238283235
756 COL6A3 NM_004369.3(COL6A3): c.3499A> T (p.Ile1167Phe) single nucleotide variant Uncertain significance rs886042996 GRCh38 Chromosome 2, 237374592: 237374592
757 COL6A2 NM_001849.3(COL6A2): c.*5G> A single nucleotide variant Conflicting interpretations of pathogenicity rs377195134 GRCh37 Chromosome 21, 47552471: 47552471
758 COL6A2 NM_001849.3(COL6A2): c.*5G> A single nucleotide variant Conflicting interpretations of pathogenicity rs377195134 GRCh38 Chromosome 21, 46132557: 46132557
759 COL6A3 NM_004369.3(COL6A3): c.8243C> T (p.Pro2748Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs115595706 GRCh37 Chromosome 2, 238249316: 238249316
760 COL6A3 NM_004369.3(COL6A3): c.8243C> T (p.Pro2748Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs115595706 GRCh38 Chromosome 2, 237340673: 237340673
761 COL6A1 NM_001848.2(COL6A1): c.1708G> A (p.Ala570Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs144358858 GRCh37 Chromosome 21, 47419100: 47419100
762 COL6A1 NM_001848.2(COL6A1): c.1708G> A (p.Ala570Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs144358858 GRCh38 Chromosome 21, 45999186: 45999186
763 COL6A2 NM_001849.3(COL6A2): c.1053+6G> A single nucleotide variant Uncertain significance rs373181368 GRCh37 Chromosome 21, 47537373: 47537373
764 COL6A2 NM_001849.3(COL6A2): c.1053+6G> A single nucleotide variant Uncertain significance rs373181368 GRCh38 Chromosome 21, 46117459: 46117459
765 COL6A3 NM_004369.3(COL6A3): c.5680C> T (p.Pro1894Ser) single nucleotide variant Uncertain significance rs112540218 GRCh37 Chromosome 2, 238274499: 238274499
766 COL6A3 NM_004369.3(COL6A3): c.5680C> T (p.Pro1894Ser) single nucleotide variant Uncertain significance rs112540218 GRCh38 Chromosome 2, 237365856: 237365856
767 COL6A1 NM_001848.2(COL6A1): c.2250+6G> C single nucleotide variant Benign/Likely benign rs202212586 GRCh37 Chromosome 21, 47422321: 47422321
768 COL6A1 NM_001848.2(COL6A1): c.2250+6G> C single nucleotide variant Benign/Likely benign rs202212586 GRCh38 Chromosome 21, 46002407: 46002407
769 COL6A2 NM_001849.3(COL6A2): c.791G> A (p.Arg264His) single nucleotide variant Uncertain significance rs148029276 GRCh37 Chromosome 21, 47533977: 47533977
770 COL6A2 NM_001849.3(COL6A2): c.791G> A (p.Arg264His) single nucleotide variant Uncertain significance rs148029276 GRCh38 Chromosome 21, 46114063: 46114063
771 COL6A2 NM_001849.3(COL6A2): c.1129C> T (p.Arg377Cys) single nucleotide variant Likely benign rs144801620 GRCh37 Chromosome 21, 47538540: 47538540
772 COL6A2 NM_001849.3(COL6A2): c.1129C> T (p.Arg377Cys) single nucleotide variant Likely benign rs144801620 GRCh38 Chromosome 21, 46118626: 46118626
773 COL6A3 NM_004369.3(COL6A3): c.7849G> A (p.Asp2617Asn) single nucleotide variant Conflicting interpretations of pathogenicity rs138285547 GRCh37 Chromosome 2, 238249710: 238249710
774 COL6A3 NM_004369.3(COL6A3): c.7849G> A (p.Asp2617Asn) single nucleotide variant Conflicting interpretations of pathogenicity rs138285547 GRCh38 Chromosome 2, 237341067: 237341067
775 COL6A1 NM_001848.2(COL6A1): c.2049C> T (p.Asn683=) single nucleotide variant Benign/Likely benign rs143695871 GRCh37 Chromosome 21, 47421967: 47421967
776 COL6A1 NM_001848.2(COL6A1): c.2049C> T (p.Asn683=) single nucleotide variant Benign/Likely benign rs143695871 GRCh38 Chromosome 21, 46002053: 46002053
777 COL6A3 NM_004369.3(COL6A3): c.3205G> A (p.Val1069Met) single nucleotide variant Benign/Likely benign rs115297652 GRCh37 Chromosome 2, 238283529: 238283529
778 COL6A3 NM_004369.3(COL6A3): c.3205G> A (p.Val1069Met) single nucleotide variant Benign/Likely benign rs115297652 GRCh38 Chromosome 2, 237374886: 237374886
779 COL6A3 NM_004369.3(COL6A3): c.9017A> G (p.Lys3006Arg) single nucleotide variant Benign/Likely benign rs2270668 GRCh37 Chromosome 2, 238243481: 238243481
780 COL6A3 NM_004369.3(COL6A3): c.9017A> G (p.Lys3006Arg) single nucleotide variant Benign/Likely benign rs2270668 GRCh38 Chromosome 2, 237334838: 237334838
781 COL6A3 NM_004369.3(COL6A3): c.5394C> T (p.Arg1798=) single nucleotide variant Conflicting interpretations of pathogenicity rs202086524 GRCh37 Chromosome 2, 238275436: 238275436
782 COL6A3 NM_004369.3(COL6A3): c.5394C> T (p.Arg1798=) single nucleotide variant Conflicting interpretations of pathogenicity rs202086524 GRCh38 Chromosome 2, 237366793: 237366793
783 COL6A3 NM_004369.3(COL6A3): c.107C> T (p.Ala36Val) single nucleotide variant Uncertain significance rs572020866 GRCh37 Chromosome 2, 238303832: 238303832
784 COL6A3 NM_004369.3(COL6A3): c.107C> T (p.Ala36Val) single nucleotide variant Uncertain significance rs572020866 GRCh38 Chromosome 2, 237395189: 237395189
785 COL6A3 NM_004369.3(COL6A3): c.3118G> A (p.Val1040Ile) single nucleotide variant Conflicting interpretations of pathogenicity rs78427077 GRCh37 Chromosome 2, 238283616: 238283616
786 COL6A3 NM_004369.3(COL6A3): c.3118G> A (p.Val1040Ile) single nucleotide variant Conflicting interpretations of pathogenicity rs78427077 GRCh38 Chromosome 2, 237374973: 237374973
787 COL6A1 NM_001848.2(COL6A1): c.424G> C (p.Val142Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs144282452 GRCh37 Chromosome 21, 47404379: 47404379
788 COL6A1 NM_001848.2(COL6A1): c.424G> C (p.Val142Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs144282452 GRCh38 Chromosome 21, 45984465: 45984465
789 COL6A1 NM_001848.2(COL6A1): c.409C> G (p.Leu137Val) single nucleotide variant Conflicting interpretations of pathogenicity rs139648899 GRCh37 Chromosome 21, 47404364: 47404364
790 COL6A1 NM_001848.2(COL6A1): c.409C> G (p.Leu137Val) single nucleotide variant Conflicting interpretations of pathogenicity rs139648899 GRCh38 Chromosome 21, 45984450: 45984450
791 COL6A2 NM_001849.3(COL6A2): c.2312dup (p.Asn771Lysfs) duplication Pathogenic rs886043164 GRCh37 Chromosome 21, 47546041: 47546041
792 COL6A2 NM_001849.3(COL6A2): c.2312dup (p.Asn771Lysfs) duplication Pathogenic rs886043164 GRCh38 Chromosome 21, 46126127: 46126127
793 COL6A3 NM_004369.3(COL6A3): c.5968C> T (p.Arg1990Trp) single nucleotide variant Conflicting interpretations of pathogenicity rs146546544 GRCh37 Chromosome 2, 238271991: 238271991
794 COL6A3 NM_004369.3(COL6A3): c.5968C> T (p.Arg1990Trp) single nucleotide variant Conflicting interpretations of pathogenicity rs146546544 GRCh38 Chromosome 2, 237363348: 237363348
795 COL6A1 NM_001848.2(COL6A1): c.2758C> T (p.Leu920=) single nucleotide variant Benign/Likely benign rs141620374 GRCh37 Chromosome 21, 47423598: 47423598
796 COL6A1 NM_001848.2(COL6A1): c.2758C> T (p.Leu920=) single nucleotide variant Benign/Likely benign rs141620374 GRCh38 Chromosome 21, 46003684: 46003684
797 COL6A2 NM_001849.3(COL6A2): c.2785G> A (p.Val929Met) single nucleotide variant Uncertain significance rs145527336 GRCh37 Chromosome 21, 47552191: 47552191
798 COL6A2 NM_001849.3(COL6A2): c.2785G> A (p.Val929Met) single nucleotide variant Uncertain significance rs145527336 GRCh38 Chromosome 21, 46132277: 46132277
799 COL6A2 NM_001849.3(COL6A2): c.2083G> A (p.Glu695Lys) single nucleotide variant Uncertain significance rs377376395 GRCh37 Chromosome 21, 47545812: 47545812
800 COL6A2 NM_001849.3(COL6A2): c.2083G> A (p.Glu695Lys) single nucleotide variant Uncertain significance rs377376395 GRCh38 Chromosome 21, 46125898: 46125898
801 COL6A2 NM_001849.3(COL6A2): c.2656G> A (p.Gly886Ser) single nucleotide variant Uncertain significance rs571488000 GRCh37 Chromosome 21, 47552062: 47552062
802 COL6A2 NM_001849.3(COL6A2): c.2656G> A (p.Gly886Ser) single nucleotide variant Uncertain significance rs571488000 GRCh38 Chromosome 21, 46132148: 46132148
803 COL6A3 NM_004369.3(COL6A3): c.6354+1G> A single nucleotide variant Pathogenic/Likely pathogenic rs886042883 GRCh37 Chromosome 2, 238267848: 238267848
804 COL6A3 NM_004369.3(COL6A3): c.6354+1G> A single nucleotide variant Pathogenic/Likely pathogenic rs886042883 GRCh38 Chromosome 2, 237359205: 237359205
805 COL6A3 NM_004369.3(COL6A3): c.8007C> T (p.His2669=) single nucleotide variant Likely benign rs528369978 GRCh37 Chromosome 2, 238249552: 238249552
806 COL6A3 NM_004369.3(COL6A3): c.8007C> T (p.His2669=) single nucleotide variant Likely benign rs528369978 GRCh38 Chromosome 2, 237340909: 237340909
807 COL6A3 NM_004369.3(COL6A3): c.1385A> G (p.Asn462Ser) single nucleotide variant Uncertain significance rs200250810 GRCh37 Chromosome 2, 238290070: 238290070
808 COL6A3 NM_004369.3(COL6A3): c.1385A> G (p.Asn462Ser) single nucleotide variant Uncertain significance rs200250810 GRCh38 Chromosome 2, 237381427: 237381427
809 COL6A2 NM_001849.3(COL6A2): c.865G> T (p.Gly289Cys) single nucleotide variant Pathogenic rs886043270 GRCh37 Chromosome 21, 47535932: 47535932
810 COL6A2 NM_001849.3(COL6A2): c.865G> T (p.Gly289Cys) single nucleotide variant Pathogenic rs886043270 GRCh38 Chromosome 21, 46116018: 46116018
811 COL6A3 NM_004369.3(COL6A3): c.4900+9C> T single nucleotide variant Conflicting interpretations of pathogenicity rs117345850 GRCh37 Chromosome 2, 238277197: 238277197
812 COL6A3 NM_004369.3(COL6A3): c.4900+9C> T single nucleotide variant Conflicting interpretations of pathogenicity rs117345850 GRCh38 Chromosome 2, 237368554: 237368554
813 COL6A1 NM_001848.2(COL6A1): c.2147C> T (p.Pro716Leu) single nucleotide variant Uncertain significance rs755589190 GRCh37 Chromosome 21, 47422212: 47422212
814 COL6A1 NM_001848.2(COL6A1): c.2147C> T (p.Pro716Leu) single nucleotide variant Uncertain significance rs755589190 GRCh38 Chromosome 21, 46002298: 46002298
815 COL6A3 NM_004369.3(COL6A3): c.8632A> G (p.Thr2878Ala) single nucleotide variant Uncertain significance rs761653490 GRCh37 Chromosome 2, 238245111: 238245111
816 COL6A3 NM_004369.3(COL6A3): c.8632A> G (p.Thr2878Ala) single nucleotide variant Uncertain significance rs761653490 GRCh38 Chromosome 2, 237336468: 237336468
817 COL6A3 NM_004369.3(COL6A3): c.4510C> A (p.Arg1504=) single nucleotide variant Conflicting interpretations of pathogenicity rs144223596 GRCh37 Chromosome 2, 238277596: 238277596
818 COL6A3 NM_004369.3(COL6A3): c.4510C> A (p.Arg1504=) single nucleotide variant Conflicting interpretations of pathogenicity rs144223596 GRCh38 Chromosome 2, 237368953: 237368953
819 COL6A1 NM_001848.2(COL6A1): c.2464+9C> T single nucleotide variant Conflicting interpretations of pathogenicity rs368651226 GRCh37 Chromosome 21, 47423072: 47423072
820 COL6A1 NM_001848.2(COL6A1): c.2464+9C> T single nucleotide variant Conflicting interpretations of pathogenicity rs368651226 GRCh38 Chromosome 21, 46003158: 46003158
821 COL6A3 NM_004369.3(COL6A3): c.5652C> T (p.Thr1884=) single nucleotide variant Conflicting interpretations of pathogenicity rs200285455 GRCh37 Chromosome 2, 238274527: 238274527
822 COL6A3 NM_004369.3(COL6A3): c.5652C> T (p.Thr1884=) single nucleotide variant Conflicting interpretations of pathogenicity rs200285455 GRCh38 Chromosome 2, 237365884: 237365884
823 COL6A2 NM_001849.3(COL6A2): c.492C> T (p.His164=) single nucleotide variant Conflicting interpretations of pathogenicity rs140929054 GRCh37 Chromosome 21, 47532269: 47532269
824 COL6A2 NM_001849.3(COL6A2): c.492C> T (p.His164=) single nucleotide variant Conflicting interpretations of pathogenicity rs140929054 GRCh38 Chromosome 21, 46112355: 46112355
825 COL6A1 NM_001848.2(COL6A1): c.1039_1052delGGCTCGCCCGGGTT (p.Gly347Terfs) deletion Pathogenic rs886043291 GRCh37 Chromosome 21, 47410723: 47410736
826 COL6A1 NM_001848.2(COL6A1): c.1039_1052delGGCTCGCCCGGGTT (p.Gly347Terfs) deletion Pathogenic rs886043291 GRCh38 Chromosome 21, 45990809: 45990822
827 COL6A2 NM_001849.3(COL6A2): c.838G> C (p.Gly280Arg) single nucleotide variant Pathogenic/Likely pathogenic rs886043323 GRCh37 Chromosome 21, 47535822: 47535822
828 COL6A2 NM_001849.3(COL6A2): c.838G> C (p.Gly280Arg) single nucleotide variant Pathogenic/Likely pathogenic rs886043323 GRCh38 Chromosome 21, 46115908: 46115908
829 COL6A3 NM_004369.3(COL6A3): c.4121A> T (p.Asp1374Val) single nucleotide variant Conflicting interpretations of pathogenicity rs766488017 GRCh37 Chromosome 2, 238280539: 238280539
830 COL6A3 NM_004369.3(COL6A3): c.4121A> T (p.Asp1374Val) single nucleotide variant Conflicting interpretations of pathogenicity rs766488017 GRCh38 Chromosome 2, 237371896: 237371896
831 COL6A3 NM_004369.3(COL6A3): c.7551C> T (p.Asn2517=) single nucleotide variant Conflicting interpretations of pathogenicity rs570963533 GRCh37 Chromosome 2, 238253110: 238253110
832 COL6A3 NM_004369.3(COL6A3): c.7551C> T (p.Asn2517=) single nucleotide variant Conflicting interpretations of pathogenicity rs570963533 GRCh38 Chromosome 2, 237344467: 237344467
833 COL6A3 NM_004369.3(COL6A3): c.5635G> A (p.Gly1879Ser) single nucleotide variant Uncertain significance rs760603443 GRCh37 Chromosome 2, 238274544: 238274544
834 COL6A3 NM_004369.3(COL6A3): c.5635G> A (p.Gly1879Ser) single nucleotide variant Uncertain significance rs760603443 GRCh38 Chromosome 2, 237365901: 237365901
835 COL6A2 NM_001849.3(COL6A2): c.1962C> T (p.Ser654=) single nucleotide variant Conflicting interpretations of pathogenicity rs150253422 GRCh37 Chromosome 21, 47545524: 47545524
836 COL6A2 NM_001849.3(COL6A2): c.1962C> T (p.Ser654=) single nucleotide variant Conflicting interpretations of pathogenicity rs150253422 GRCh38 Chromosome 21, 46125610: 46125610
837 COL6A2 NM_001849.3(COL6A2): c.2326G> A (p.Ala776Thr) single nucleotide variant Uncertain significance rs759293889 GRCh37 Chromosome 21, 47546055: 47546055
838 COL6A2 NM_001849.3(COL6A2): c.2326G> A (p.Ala776Thr) single nucleotide variant Uncertain significance rs759293889 GRCh38 Chromosome 21, 46126141: 46126141
839 COL6A3 NM_004369.3(COL6A3): c.761delG (p.Gly254Glufs) deletion Pathogenic rs780921503 GRCh37 Chromosome 2, 238296776: 238296776
840 COL6A3 NM_004369.3(COL6A3): c.761delG (p.Gly254Glufs) deletion Pathogenic rs780921503 GRCh38 Chromosome 2, 237388133: 237388133
841 COL6A2 NM_001849.3(COL6A2): c.2170C> T (p.Arg724Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs150098077 GRCh37 Chromosome 21, 47545899: 47545899
842 COL6A2 NM_001849.3(COL6A2): c.2170C> T (p.Arg724Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs150098077 GRCh38 Chromosome 21, 46125985: 46125985
843 COL6A1 NM_001848.2(COL6A1): c.3029A> G (p.Gln1010Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs141605607 GRCh37 Chromosome 21, 47423869: 47423869
844 COL6A1 NM_001848.2(COL6A1): c.3029A> G (p.Gln1010Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs141605607 GRCh38 Chromosome 21, 46003955: 46003955
845 COL6A3 NM_004369.3(COL6A3): c.4678G> A (p.Ala1560Thr) single nucleotide variant Uncertain significance rs371631320 GRCh37 Chromosome 2, 238277428: 238277428
846 COL6A3 NM_004369.3(COL6A3): c.4678G> A (p.Ala1560Thr) single nucleotide variant Uncertain significance rs371631320 GRCh38 Chromosome 2, 237368785: 237368785
847 COL6A1 NM_001848.2(COL6A1): c.1666G> A (p.Gly556Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs886043521 GRCh37 Chromosome 21, 47418865: 47418865
848 COL6A1 NM_001848.2(COL6A1): c.1666G> A (p.Gly556Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs886043521 GRCh38 Chromosome 21, 45998951: 45998951
849 COL6A3 NM_004369.3(COL6A3): c.6890G> C (p.Gly2297Ala) single nucleotide variant Likely pathogenic rs886043576 GRCh37 Chromosome 2, 238257296: 238257296
850 COL6A3 NM_004369.3(COL6A3): c.6890G> C (p.Gly2297Ala) single nucleotide variant Likely pathogenic rs886043576 GRCh38 Chromosome 2, 237348653: 237348653
851 COL6A3 NM_004369.3(COL6A3): c.9498C> T (p.Leu3166=) single nucleotide variant Conflicting interpretations of pathogenicity rs150376179 GRCh37 Chromosome 2, 238233453: 238233453
852 COL6A3 NM_004369.3(COL6A3): c.9498C> T (p.Leu3166=) single nucleotide variant Conflicting interpretations of pathogenicity rs150376179 GRCh38 Chromosome 2, 237324810: 237324810
853 COL6A2 NM_001849.3(COL6A2): c.288C> T (p.Tyr96=) single nucleotide variant Conflicting interpretations of pathogenicity rs61735833 GRCh37 Chromosome 21, 47532065: 47532065
854 COL6A2 NM_001849.3(COL6A2): c.288C> T (p.Tyr96=) single nucleotide variant Conflicting interpretations of pathogenicity rs61735833 GRCh38 Chromosome 21, 46112151: 46112151
855 COL6A2 NM_001849.3(COL6A2): c.942C> T (p.Ala314=) single nucleotide variant Conflicting interpretations of pathogenicity rs531713008 GRCh37 Chromosome 21, 47536579: 47536579
856 COL6A2 NM_001849.3(COL6A2): c.942C> T (p.Ala314=) single nucleotide variant Conflicting interpretations of pathogenicity rs531713008 GRCh38 Chromosome 21, 46116665: 46116665
857 COL6A1 NM_001848.2(COL6A1): c.2611G> A (p.Val871Met) single nucleotide variant Uncertain significance rs374685631 GRCh37 Chromosome 21, 47423451: 47423451
858 COL6A1 NM_001848.2(COL6A1): c.2611G> A (p.Val871Met) single nucleotide variant Uncertain significance rs374685631 GRCh38 Chromosome 21, 46003537: 46003537
859 COL6A3 NM_004369.3(COL6A3): c.6212G> A (p.Gly2071Asp) single nucleotide variant Likely pathogenic rs886043737 GRCh37 Chromosome 2, 238268801: 238268801
860 COL6A3 NM_004369.3(COL6A3): c.6212G> A (p.Gly2071Asp) single nucleotide variant Likely pathogenic rs886043737 GRCh38 Chromosome 2, 237360158: 237360158
861 COL6A3 NM_004369.3(COL6A3): c.9508G> A (p.Gly3170Arg) single nucleotide variant Uncertain significance rs568632361 GRCh37 Chromosome 2, 238233443: 238233443
862 COL6A3 NM_004369.3(COL6A3): c.9508G> A (p.Gly3170Arg) single nucleotide variant Uncertain significance rs568632361 GRCh38 Chromosome 2, 237324800: 237324800
863 COL6A2 NM_001849.3(COL6A2): c.2809C> T (p.Arg937Trp) single nucleotide variant Uncertain significance rs755352246 GRCh37 Chromosome 21, 47552215: 47552215
864 COL6A2 NM_001849.3(COL6A2): c.2809C> T (p.Arg937Trp) single nucleotide variant Uncertain significance rs755352246 GRCh38 Chromosome 21, 46132301: 46132301
865 COL6A2 NM_001849.3(COL6A2): c.735+7G> A single nucleotide variant Conflicting interpretations of pathogenicity rs575365107 GRCh37 Chromosome 21, 47532745: 47532745
866 COL6A2 NM_001849.3(COL6A2): c.735+7G> A single nucleotide variant Conflicting interpretations of pathogenicity rs575365107 GRCh38 Chromosome 21, 46112831: 46112831
867 COL6A1 NM_001848.2(COL6A1): c.1002+1G> A single nucleotide variant Pathogenic rs886043700 GRCh37 Chromosome 21, 47410337: 47410337
868 COL6A1 NM_001848.2(COL6A1): c.1002+1G> A single nucleotide variant Pathogenic rs886043700 GRCh38 Chromosome 21, 45990423: 45990423
869 COL6A1 NM_001848.2(COL6A1): c.2899A> G (p.Ile967Val) single nucleotide variant Uncertain significance rs777671647 GRCh37 Chromosome 21, 47423739: 47423739
870 COL6A1 NM_001848.2(COL6A1): c.2899A> G (p.Ile967Val) single nucleotide variant Uncertain significance rs777671647 GRCh38 Chromosome 21, 46003825: 46003825
871 COL6A2 NM_001849.3(COL6A2): c.2634G> A (p.Ala878=) single nucleotide variant Conflicting interpretations of pathogenicity rs143749884 GRCh37 Chromosome 21, 47552040: 47552040
872 COL6A2 NM_001849.3(COL6A2): c.2634G> A (p.Ala878=) single nucleotide variant Conflicting interpretations of pathogenicity rs143749884 GRCh38 Chromosome 21, 46132126: 46132126
873 COL6A3 NM_004369.3(COL6A3): c.4431C> T (p.Val1477=) single nucleotide variant Conflicting interpretations of pathogenicity rs151289203 GRCh37 Chromosome 2, 238277675: 238277675
874 COL6A3 NM_004369.3(COL6A3): c.4431C> T (p.Val1477=) single nucleotide variant Conflicting interpretations of pathogenicity rs151289203 GRCh38 Chromosome 2, 237369032: 237369032
875 COL6A2 NM_001849.3(COL6A2): c.628G> A (p.Glu210Lys) single nucleotide variant Uncertain significance rs113017484 GRCh37 Chromosome 21, 47532405: 47532405
876 COL6A2 NM_001849.3(COL6A2): c.628G> A (p.Glu210Lys) single nucleotide variant Uncertain significance rs113017484 GRCh38 Chromosome 21, 46112491: 46112491
877 COL6A3 NM_004369.3(COL6A3): c.7114G> A (p.Asp2372Asn) single nucleotide variant Uncertain significance rs142002241 GRCh37 Chromosome 2, 238253835: 238253835
878 COL6A3 NM_004369.3(COL6A3): c.7114G> A (p.Asp2372Asn) single nucleotide variant Uncertain significance rs142002241 GRCh38 Chromosome 2, 237345192: 237345192
879 COL6A3 NM_004369.3(COL6A3): c.5019C> T (p.Gly1673=) single nucleotide variant Conflicting interpretations of pathogenicity rs140516220 GRCh37 Chromosome 2, 238275811: 238275811
880 COL6A3 NM_004369.3(COL6A3): c.5019C> T (p.Gly1673=) single nucleotide variant Conflicting interpretations of pathogenicity rs140516220 GRCh38 Chromosome 2, 237367168: 237367168
881 COL6A2 NM_001849.3(COL6A2): c.2749G> A (p.Val917Met) single nucleotide variant Uncertain significance rs145381639 GRCh37 Chromosome 21, 47552155: 47552155
882 COL6A2 NM_001849.3(COL6A2): c.2749G> A (p.Val917Met) single nucleotide variant Uncertain significance rs145381639 GRCh38 Chromosome 21, 46132241: 46132241
883 COL6A3 NM_004369.3(COL6A3): c.3055G> A (p.Gly1019Arg) single nucleotide variant Uncertain significance rs370664069 GRCh37 Chromosome 2, 238285430: 238285430
884 COL6A3 NM_004369.3(COL6A3): c.3055G> A (p.Gly1019Arg) single nucleotide variant Uncertain significance rs370664069 GRCh38 Chromosome 2, 237376787: 237376787
885 COL6A2 NM_001849.3(COL6A2): c.643G> A (p.Asp215Asn) single nucleotide variant Uncertain significance rs563449281 GRCh37 Chromosome 21, 47532420: 47532420
886 COL6A2 NM_001849.3(COL6A2): c.643G> A (p.Asp215Asn) single nucleotide variant Uncertain significance rs563449281 GRCh38 Chromosome 21, 46112506: 46112506
887 COL6A3 NM_004369.3(COL6A3): c.2147G> A (p.Gly716Asp) single nucleotide variant Conflicting interpretations of pathogenicity rs144514259 GRCh37 Chromosome 2, 238287629: 238287629
888 COL6A3 NM_004369.3(COL6A3): c.2147G> A (p.Gly716Asp) single nucleotide variant Conflicting interpretations of pathogenicity rs144514259 GRCh38 Chromosome 2, 237378986: 237378986
889 COL6A3 NM_004369.3(COL6A3): c.4032G> A (p.Ser1344=) single nucleotide variant Benign/Likely benign rs145048734 GRCh37 Chromosome 2, 238280628: 238280628
890 COL6A3 NM_004369.3(COL6A3): c.4032G> A (p.Ser1344=) single nucleotide variant Benign/Likely benign rs145048734 GRCh38 Chromosome 2, 237371985: 237371985
891 COL6A3 NM_004369.3(COL6A3): c.6677C> T (p.Thr2226Ile) single nucleotide variant Uncertain significance rs376621780 GRCh37 Chromosome 2, 238261997: 238261997
892 COL6A3 NM_004369.3(COL6A3): c.6677C> T (p.Thr2226Ile) single nucleotide variant Uncertain significance rs376621780 GRCh38 Chromosome 2, 237353354: 237353354
893 COL6A2 NM_001849.3(COL6A2): c.2171G> T (p.Arg724Leu) single nucleotide variant Uncertain significance rs145450812 GRCh37 Chromosome 21, 47545900: 47545900
894 COL6A2 NM_001849.3(COL6A2): c.2171G> T (p.Arg724Leu) single nucleotide variant Uncertain significance rs145450812 GRCh38 Chromosome 21, 46125986: 46125986
895 COL6A3 NM_004369.3(COL6A3): c.8744C> T (p.Ala2915Val) single nucleotide variant Uncertain significance rs751532649 GRCh37 Chromosome 2, 238244999: 238244999
896 COL6A3 NM_004369.3(COL6A3): c.8744C> T (p.Ala2915Val) single nucleotide variant Uncertain significance rs751532649 GRCh38 Chromosome 2, 237336356: 237336356
897 COL6A3 NM_004369.3(COL6A3): c.8193A> C (p.Pro2731=) single nucleotide variant Conflicting interpretations of pathogenicity rs140441798 GRCh37 Chromosome 2, 238249366: 238249366
898 COL6A3 NM_004369.3(COL6A3): c.8193A> C (p.Pro2731=) single nucleotide variant Conflicting interpretations of pathogenicity rs140441798 GRCh38 Chromosome 2, 237340723: 237340723
899 COL6A2 NM_001849.3(COL6A2): c.2623G> A (p.Ala875Thr) single nucleotide variant Uncertain significance rs199606147 GRCh37 Chromosome 21, 47552029: 47552029
900 COL6A2 NM_001849.3(COL6A2): c.2623G> A (p.Ala875Thr) single nucleotide variant Uncertain significance rs199606147 GRCh38 Chromosome 21, 46132115: 46132115
901 COL6A2 NM_001849.3(COL6A2): c.2251G> A (p.Asp751Asn) single nucleotide variant Uncertain significance rs375884809 GRCh37 Chromosome 21, 47545980: 47545980
902 COL6A2 NM_001849.3(COL6A2): c.2251G> A (p.Asp751Asn) single nucleotide variant Uncertain significance rs375884809 GRCh38 Chromosome 21, 46126066: 46126066
903 COL6A3 NM_004369.3(COL6A3): c.1065C> T (p.Ala355=) single nucleotide variant Conflicting interpretations of pathogenicity rs115155458 GRCh37 Chromosome 2, 238296472: 238296472
904 COL6A3 NM_004369.3(COL6A3): c.1065C> T (p.Ala355=) single nucleotide variant Conflicting interpretations of pathogenicity rs115155458 GRCh38 Chromosome 2, 237387829: 237387829
905 COL6A2 NM_001849.3(COL6A2): c.1348G> C (p.Glu450Gln) single nucleotide variant Uncertain significance rs757846451 GRCh37 Chromosome 21, 47540444: 47540444
906 COL6A2 NM_001849.3(COL6A2): c.1348G> C (p.Glu450Gln) single nucleotide variant Uncertain significance rs757846451 GRCh38 Chromosome 21, 46120530: 46120530
907 COL6A3 NM_004369.3(COL6A3): c.9116C> T (p.Thr3039Met) single nucleotide variant Uncertain significance rs116655315 GRCh37 Chromosome 2, 238243382: 238243382
908 COL6A3 NM_004369.3(COL6A3): c.9116C> T (p.Thr3039Met) single nucleotide variant Uncertain significance rs116655315 GRCh38 Chromosome 2, 237334739: 237334739
909 COL6A2 NM_001849.3(COL6A2): c.2784C> T (p.Ile928=) single nucleotide variant Conflicting interpretations of pathogenicity rs199501232 GRCh37 Chromosome 21, 47552190: 47552190
910 COL6A2 NM_001849.3(COL6A2): c.2784C> T (p.Ile928=) single nucleotide variant Conflicting interpretations of pathogenicity rs199501232 GRCh38 Chromosome 21, 46132276: 46132276
911 COL6A3 NM_004369.3(COL6A3): c.2231C> T (p.Pro744Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs199504304 GRCh37 Chromosome 2, 238287545: 238287545
912 COL6A3 NM_004369.3(COL6A3): c.2231C> T (p.Pro744Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs199504304 GRCh38 Chromosome 2, 237378902: 237378902
913 COL6A3 NM_004369.3(COL6A3): c.709+8C> T single nucleotide variant Uncertain significance rs779535244 GRCh37 Chromosome 2, 238303222: 238303222
914 COL6A3 NM_004369.3(COL6A3): c.709+8C> T single nucleotide variant Uncertain significance rs779535244 GRCh38 Chromosome 2, 237394579: 237394579
915 COL6A3 NM_004369.3(COL6A3): c.5609G> A (p.Ser1870Asn) single nucleotide variant Benign/Likely benign rs114804083 GRCh37 Chromosome 2, 238274570: 238274570
916 COL6A3 NM_004369.3(COL6A3): c.5609G> A (p.Ser1870Asn) single nucleotide variant Benign/Likely benign rs114804083 GRCh38 Chromosome 2, 237365927: 237365927
917 COL6A2 NM_001849.3(COL6A2): c.1970-10C> T single nucleotide variant Conflicting interpretations of pathogenicity rs373369963 GRCh37 Chromosome 21, 47545689: 47545689
918 COL6A2 NM_001849.3(COL6A2): c.1970-10C> T single nucleotide variant Conflicting interpretations of pathogenicity rs373369963 GRCh38 Chromosome 21, 46125775: 46125775
919 COL6A2 NM_001849.3(COL6A2): c.1054-2A> G single nucleotide variant Pathogenic/Likely pathogenic rs886044023 GRCh37 Chromosome 21, 47537786: 47537786
920 COL6A2 NM_001849.3(COL6A2): c.1054-2A> G single nucleotide variant Pathogenic/Likely pathogenic rs886044023 GRCh38 Chromosome 21, 46117872: 46117872
921 COL6A3 NM_004369.3(COL6A3): c.7575G> A (p.Gln2525=) single nucleotide variant Conflicting interpretations of pathogenicity rs752232293 GRCh37 Chromosome 2, 238253086: 238253086
922 COL6A3 NM_004369.3(COL6A3): c.7575G> A (p.Gln2525=) single nucleotide variant Conflicting interpretations of pathogenicity rs752232293 GRCh38 Chromosome 2, 237344443: 237344443
923 COL6A2 NM_001849.3(COL6A2): c.2435T> C (p.Val812Ala) single nucleotide variant Uncertain significance rs886044025 GRCh37 Chromosome 21, 47546429: 47546429
924 COL6A2 NM_001849.3(COL6A2): c.2435T> C (p.Val812Ala) single nucleotide variant Uncertain significance rs886044025 GRCh38 Chromosome 21, 46126515: 46126515
925 COL6A3 NM_004369.3(COL6A3): c.6769G> A (p.Ala2257Thr) single nucleotide variant Uncertain significance rs372154635 GRCh37 Chromosome 2, 238259820: 238259820
926 COL6A3 NM_004369.3(COL6A3): c.6769G> A (p.Ala2257Thr) single nucleotide variant Uncertain significance rs372154635 GRCh38 Chromosome 2, 237351177: 237351177
927 COL6A3 NM_004369.3(COL6A3): c.1538G> A (p.Arg513Gln) single nucleotide variant Uncertain significance rs139498556 GRCh37 Chromosome 2, 238289917: 238289917
928 COL6A3 NM_004369.3(COL6A3): c.1538G> A (p.Arg513Gln) single nucleotide variant Uncertain significance rs139498556 GRCh38 Chromosome 2, 237381274: 237381274
929 COL6A3 NM_004369.3(COL6A3): c.6289C> T (p.Arg2097Trp) single nucleotide variant Uncertain significance rs148252611 GRCh37 Chromosome 2, 238268025: 238268025
930 COL6A3 NM_004369.3(COL6A3): c.6289C> T (p.Arg2097Trp) single nucleotide variant Uncertain significance rs148252611 GRCh38 Chromosome 2, 237359382: 237359382
931 COL6A3 NM_004369.3(COL6A3): c.898_900delTCC (p.Ser300del) deletion Uncertain significance rs554176183 GRCh37 Chromosome 2, 238296637: 238296639
932 COL6A3 NM_004369.3(COL6A3): c.898_900delTCC (p.Ser300del) deletion Uncertain significance rs554176183 GRCh38 Chromosome 2, 237387994: 237387996
933 COL6A2 NM_001849.3(COL6A2): c.2937C> T (p.Asp979=) single nucleotide variant Conflicting interpretations of pathogenicity rs150716220 GRCh37 Chromosome 21, 47552343: 47552343
934 COL6A2 NM_001849.3(COL6A2): c.2937C> T (p.Asp979=) single nucleotide variant Conflicting interpretations of pathogenicity rs150716220 GRCh38 Chromosome 21, 46132429: 46132429
935 COL6A2 NM_001849.3(COL6A2): c.848G> A (p.Gly283Glu) single nucleotide variant Pathogenic/Likely pathogenic rs886044088 GRCh37 Chromosome 21, 47535832: 47535832
936 COL6A2 NM_001849.3(COL6A2): c.848G> A (p.Gly283Glu) single nucleotide variant Pathogenic/Likely pathogenic rs886044088 GRCh38 Chromosome 21, 46115918: 46115918
937 COL6A1 NM_001848.2(COL6A1): c.2355C> A (p.Gly785=) single nucleotide variant Conflicting interpretations of pathogenicity rs149910296 GRCh37 Chromosome 21, 47422545: 47422545
938 COL6A1 NM_001848.2(COL6A1): c.2355C> A (p.Gly785=) single nucleotide variant Conflicting interpretations of pathogenicity rs149910296 GRCh38 Chromosome 21, 46002631: 46002631
939 COL6A3 NM_004369.3(COL6A3): c.861C> T (p.Ser287=) single nucleotide variant Conflicting interpretations of pathogenicity rs756380512 GRCh37 Chromosome 2, 238296676: 238296676
940 COL6A3 NM_004369.3(COL6A3): c.861C> T (p.Ser287=) single nucleotide variant Conflicting interpretations of pathogenicity rs756380512 GRCh38 Chromosome 2, 237388033: 237388033
941 COL6A2 NM_001849.3(COL6A2): c.2243G> A (p.Cys748Tyr) single nucleotide variant Uncertain significance rs200072495 GRCh37 Chromosome 21, 47545972: 47545972
942 COL6A2 NM_001849.3(COL6A2): c.2243G> A (p.Cys748Tyr) single nucleotide variant Uncertain significance rs200072495 GRCh38 Chromosome 21, 46126058: 46126058
943 COL6A2 NM_001849.3(COL6A2): c.229T> C (p.Phe77Leu) single nucleotide variant Uncertain significance rs199736749 GRCh37 Chromosome 21, 47532006: 47532006
944 COL6A2 NM_001849.3(COL6A2): c.229T> C (p.Phe77Leu) single nucleotide variant Uncertain significance rs199736749 GRCh38 Chromosome 21, 46112092: 46112092
945 COL6A2 NM_001849.3(COL6A2): c.2982C> T (p.Ala994=) single nucleotide variant Likely benign rs145460820 GRCh37 Chromosome 21, 47552388: 47552388
946 COL6A2 NM_001849.3(COL6A2): c.2982C> T (p.Ala994=) single nucleotide variant Likely benign rs145460820 GRCh38 Chromosome 21, 46132474: 46132474
947 COL6A2 NM_001849.3(COL6A2): c.2244C> T (p.Cys748=) single nucleotide variant Conflicting interpretations of pathogenicity rs201426778 GRCh37 Chromosome 21, 47545973: 47545973
948 COL6A2 NM_001849.3(COL6A2): c.2244C> T (p.Cys748=) single nucleotide variant Conflicting interpretations of pathogenicity rs201426778 GRCh38 Chromosome 21, 46126059: 46126059
949 COL6A2 NM_001849.3(COL6A2): c.1053+2delT deletion Pathogenic rs886044140 GRCh37 Chromosome 21, 47537369: 47537369
950 COL6A2 NM_001849.3(COL6A2): c.1053+2delT deletion Pathogenic rs886044140 GRCh38 Chromosome 21, 46117455: 46117455
951 COL6A3 NM_004369.3(COL6A3): c.2529C> T (p.Asp843=) single nucleotide variant Conflicting interpretations of pathogenicity rs556079869 GRCh37 Chromosome 2, 238285956: 238285956
952 COL6A3 NM_004369.3(COL6A3): c.2529C> T (p.Asp843=) single nucleotide variant Conflicting interpretations of pathogenicity rs556079869 GRCh38 Chromosome 2, 237377313: 237377313
953 COL6A3 NM_004369.3(COL6A3): c.4324G> A (p.Asp1442Asn) single nucleotide variant Uncertain significance rs772700553 GRCh37 Chromosome 2, 238277782: 238277782
954 COL6A3 NM_004369.3(COL6A3): c.4324G> A (p.Asp1442Asn) single nucleotide variant Uncertain significance rs772700553 GRCh38 Chromosome 2, 237369139: 237369139
955 COL6A2 NM_001849.3(COL6A2): c.2711C> T (p.Ala904Val) single nucleotide variant Uncertain significance rs376665722 GRCh37 Chromosome 21, 47552117: 47552117
956 COL6A2 NM_001849.3(COL6A2): c.2711C> T (p.Ala904Val) single nucleotide variant Uncertain significance rs376665722 GRCh38 Chromosome 21, 46132203: 46132203
957 COL6A2 NM_001849.3(COL6A2): c.2738_2740delCCT (p.Ser913del) deletion Uncertain significance rs777696289 GRCh37 Chromosome 21, 47552144: 47552146
958 COL6A2 NM_001849.3(COL6A2): c.2738_2740delCCT (p.Ser913del) deletion Uncertain significance rs777696289 GRCh38 Chromosome 21, 46132230: 46132232
959 COL6A2 NM_001849.3(COL6A2): c.1770+1delG deletion Pathogenic/Likely pathogenic rs886044215 GRCh37 Chromosome 21, 47544835: 47544835
960 COL6A2 NM_001849.3(COL6A2): c.1770+1delG deletion Pathogenic/Likely pathogenic rs886044215 GRCh38 Chromosome 21, 46124921: 46124921
961 COL6A2 NM_001849.3(COL6A2): c.2629G> A (p.Val877Met) single nucleotide variant Uncertain significance rs369396198 GRCh37 Chromosome 21, 47552035: 47552035
962 COL6A2 NM_001849.3(COL6A2): c.2629G> A (p.Val877Met) single nucleotide variant Uncertain significance rs369396198 GRCh38 Chromosome 21, 46132121: 46132121
963 COL6A3 NM_004369.3(COL6A3): c.5825C> T (p.Pro1942Leu) single nucleotide variant Uncertain significance rs150694150 GRCh37 Chromosome 2, 238274354: 238274354
964 COL6A3 NM_004369.3(COL6A3): c.5825C> T (p.Pro1942Leu) single nucleotide variant Uncertain significance rs150694150 GRCh38 Chromosome 2, 237365711: 237365711
965 COL6A1 NM_001848.2(COL6A1): c.932G> A (p.Gly311Asp) single nucleotide variant Pathogenic/Likely pathogenic rs886044231 GRCh37 Chromosome 21, 47410173: 47410173
966 COL6A1 NM_001848.2(COL6A1): c.932G> A (p.Gly311Asp) single nucleotide variant Pathogenic/Likely pathogenic rs886044231 GRCh38 Chromosome 21, 45990259: 45990259
967 COL6A3 NM_004369.3(COL6A3): c.6220G> A (p.Gly2074Ser) single nucleotide variant Pathogenic rs886044252 GRCh37 Chromosome 2, 238268793: 238268793
968 COL6A3 NM_004369.3(COL6A3): c.6220G> A (p.Gly2074Ser) single nucleotide variant Pathogenic rs886044252 GRCh38 Chromosome 2, 237360150: 237360150
969 COL6A2 NM_001849.3(COL6A2): c.1288G> A (p.Gly430Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs765430501 GRCh37 Chromosome 21, 47539720: 47539720
970 COL6A2 NM_001849.3(COL6A2): c.1288G> A (p.Gly430Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs765430501 GRCh38 Chromosome 21, 46119806: 46119806
971 COL6A2 NM_001849.3(COL6A2): c.900+1G> C single nucleotide variant Pathogenic rs886044261 GRCh37 Chromosome 21, 47535968: 47535968
972 COL6A2 NM_001849.3(COL6A2): c.900+1G> C single nucleotide variant Pathogenic rs886044261 GRCh38 Chromosome 21, 46116054: 46116054
973 COL6A2 NM_001849.3(COL6A2): c.955-1G> A single nucleotide variant Likely pathogenic rs886044265 GRCh37 Chromosome 21, 47536683: 47536683
974 COL6A2 NM_001849.3(COL6A2): c.955-1G> A single nucleotide variant Likely pathogenic rs886044265 GRCh38 Chromosome 21, 46116769: 46116769
975 COL6A2 NM_001849.3(COL6A2): c.2284_2285delAT (p.Met762Valfs) deletion Pathogenic rs778129335 GRCh37 Chromosome 21, 47546013: 47546014
976 COL6A2 NM_001849.3(COL6A2): c.2284_2285delAT (p.Met762Valfs) deletion Pathogenic rs778129335 GRCh38 Chromosome 21, 46126099: 46126100
977 COL6A3 NM_004369.3(COL6A3): c.3223C> T (p.Arg1075Trp) single nucleotide variant Uncertain significance rs201962257 GRCh37 Chromosome 2, 238283511: 238283511
978 COL6A3 NM_004369.3(COL6A3): c.3223C> T (p.Arg1075Trp) single nucleotide variant Uncertain significance rs201962257 GRCh38 Chromosome 2, 237374868: 237374868
979 COL6A3 NM_004369.3(COL6A3): c.786C> T (p.Leu262=) single nucleotide variant Conflicting interpretations of pathogenicity rs111481402 GRCh37 Chromosome 2, 238296751: 238296751
980 COL6A3 NM_004369.3(COL6A3): c.786C> T (p.Leu262=) single nucleotide variant Conflicting interpretations of pathogenicity rs111481402 GRCh38 Chromosome 2, 237388108: 237388108
981 COL6A2 NM_001849.3(COL6A2): c.2880G> A (p.Ser960=) single nucleotide variant Benign/Likely benign rs375430758 GRCh37 Chromosome 21, 47552286: 47552286
982 COL6A2 NM_001849.3(COL6A2): c.2880G> A (p.Ser960=) single nucleotide variant Benign/Likely benign rs375430758 GRCh38 Chromosome 21, 46132372: 46132372
983 COL6A2 NM_001849.3(COL6A2): c.1751delC (p.Pro584Leufs) deletion Pathogenic rs886044398 GRCh37 Chromosome 21, 47544815: 47544815
984 COL6A2 NM_001849.3(COL6A2): c.1751delC (p.Pro584Leufs) deletion Pathogenic rs886044398 GRCh38 Chromosome 21, 46124901: 46124901
985 COL6A2 NM_001849.3(COL6A2): c.802-2A> G single nucleotide variant Pathogenic rs886044399 GRCh37 Chromosome 21, 47535784: 47535784
986 COL6A2 NM_001849.3(COL6A2): c.802-2A> G single nucleotide variant Pathogenic rs886044399 GRCh38 Chromosome 21, 46115870: 46115870
987 COL6A3 NM_004369.3(COL6A3): c.4677C> T (p.Phe1559=) single nucleotide variant Conflicting interpretations of pathogenicity rs147215386 GRCh37 Chromosome 2, 238277429: 238277429
988 COL6A3 NM_004369.3(COL6A3): c.4677C> T (p.Phe1559=) single nucleotide variant Conflicting interpretations of pathogenicity rs147215386 GRCh38 Chromosome 2, 237368786: 237368786
989 COL6A3 NM_004369.3(COL6A3): c.3371C> T (p.Ala1124Val) single nucleotide variant Conflicting interpretations of pathogenicity rs374447921 GRCh37 Chromosome 2, 238283363: 238283363
990 COL6A3 NM_004369.3(COL6A3): c.3371C> T (p.Ala1124Val) single nucleotide variant Conflicting interpretations of pathogenicity rs374447921 GRCh38 Chromosome 2, 237374720: 237374720
991 COL6A2 NM_001849.3(COL6A2): c.1817-4_1817-3dupCC duplication Benign/Likely benign rs149954350 GRCh37 Chromosome 21, 47545375: 47545376
992 COL6A2 NM_001849.3(COL6A2): c.1817-4_1817-3dupCC duplication Benign/Likely benign rs149954350 GRCh38 Chromosome 21, 46125461: 46125462
993 COL6A2 NM_001849.3(COL6A2): c.1356C> T (p.Pro452=) single nucleotide variant Conflicting interpretations of pathogenicity rs886044428 GRCh37 Chromosome 21, 47540452: 47540452
994 COL6A2 NM_001849.3(COL6A2): c.1356C> T (p.Pro452=) single nucleotide variant Conflicting interpretations of pathogenicity rs886044428 GRCh38 Chromosome 21, 46120538: 46120538
995 COL6A3 NM_004369.3(COL6A3): c.7513G> A (p.Gly2505Arg) single nucleotide variant Uncertain significance rs545819982 GRCh37 Chromosome 2, 238253148: 238253148
996 COL6A3 NM_004369.3(COL6A3): c.7513G> A (p.Gly2505Arg) single nucleotide variant Uncertain significance rs545819982 GRCh38 Chromosome 2, 237344505: 237344505
997 COL6A2 NM_001849.3(COL6A2): c.1899G> A (p.Leu633=) single nucleotide variant Benign/Likely benign rs189341312 GRCh37 Chromosome 21, 47545461: 47545461
998 COL6A2 NM_001849.3(COL6A2): c.1899G> A (p.Leu633=) single nucleotide variant Benign/Likely benign rs189341312 GRCh38 Chromosome 21, 46125547: 46125547
999 COL6A2 NM_001849.3(COL6A2): c.856-2A> C single nucleotide variant Pathogenic rs886044466 GRCh37 Chromosome 21, 47535921: 47535921
1000 COL6A2 NM_001849.3(COL6A2): c.856-2A> C single nucleotide variant Pathogenic rs886044466 GRCh38 Chromosome 21, 46116007: 46116007
1001 COL6A2 NM_001849.3(COL6A2): c.2483C> T (p.Thr828Met) single nucleotide variant Uncertain significance rs755782924 GRCh37 Chromosome 21, 47551889: 47551889
1002 COL6A2 NM_001849.3(COL6A2): c.2483C> T (p.Thr828Met) single nucleotide variant Uncertain significance rs755782924 GRCh38 Chromosome 21, 46131975: 46131975
1003 COL6A2 NM_001849.3(COL6A2): c.1458+1G> A single nucleotide variant Pathogenic rs886044526 GRCh37 Chromosome 21, 47541038: 47541038
1004 COL6A2 NM_001849.3(COL6A2): c.1458+1G> A single nucleotide variant Pathogenic rs886044526 GRCh38 Chromosome 21, 46121124: 46121124
1005 COL6A2 NM_001849.3(COL6A2): c.1140C> T (p.Arg380=) single nucleotide variant Benign/Likely benign rs144482400 GRCh37 Chromosome 21, 47538551: 47538551
1006 COL6A2 NM_001849.3(COL6A2): c.1140C> T (p.Arg380=) single nucleotide variant Benign/Likely benign rs144482400 GRCh38 Chromosome 21, 46118637: 46118637
1007 COL6A2 NM_001849.3(COL6A2): c.81G> A (p.Ser27=) single nucleotide variant Benign/Likely benign rs111639540 GRCh37 Chromosome 21, 47531471: 47531471
1008 COL6A2 NM_001849.3(COL6A2): c.81G> A (p.Ser27=) single nucleotide variant Benign/Likely benign rs111639540 GRCh38 Chromosome 21, 46111557: 46111557
1009 COL6A3 NM_004369.3(COL6A3): c.8308G> A (p.Val2770Met) single nucleotide variant Uncertain significance rs886044644 GRCh37 Chromosome 2, 238249251: 238249251
1010 COL6A3 NM_004369.3(COL6A3): c.8308G> A (p.Val2770Met) single nucleotide variant Uncertain significance rs886044644 GRCh38 Chromosome 2, 237340608: 237340608
1011 COL6A2 NM_001849.3(COL6A2): c.2454C> T (p.Cys818=) single nucleotide variant Conflicting interpretations of pathogenicity rs199499499 GRCh37 Chromosome 21, 47546448: 47546448
1012 COL6A2 NM_001849.3(COL6A2): c.2454C> T (p.Cys818=) single nucleotide variant Conflicting interpretations of pathogenicity rs199499499 GRCh38 Chromosome 21, 46126534: 46126534
1013 COL6A3 NM_004369.3(COL6A3): c.6237C> T (p.Asn2079=) single nucleotide variant Conflicting interpretations of pathogenicity rs34390834 GRCh37 Chromosome 2, 238268776: 238268776
1014 COL6A3 NM_004369.3(COL6A3): c.6237C> T (p.Asn2079=) single nucleotide variant Conflicting interpretations of pathogenicity rs34390834 GRCh38 Chromosome 2, 237360133: 237360133
1015 COL6A1 NM_001848.2(COL6A1): c.750C> A (p.Phe250Leu) single nucleotide variant Uncertain significance rs748153811 GRCh37 Chromosome 21, 47407424: 47407424
1016 COL6A1 NM_001848.2(COL6A1): c.750C> A (p.Phe250Leu) single nucleotide variant Uncertain significance rs748153811 GRCh38 Chromosome 21, 45987510: 45987510
1017 COL6A3 NM_004369.3(COL6A3): c.1131C> T (p.Phe377=) single nucleotide variant Conflicting interpretations of pathogenicity rs189772397 GRCh37 Chromosome 2, 238296406: 238296406
1018 COL6A3 NM_004369.3(COL6A3): c.1131C> T (p.Phe377=) single nucleotide variant Conflicting interpretations of pathogenicity rs189772397 GRCh38 Chromosome 2, 237387763: 237387763
1019 COL6A3 NM_004369.3(COL6A3): c.9148G> A (p.Ala3050Thr) single nucleotide variant Benign/Likely benign rs114596320 GRCh38 Chromosome 2, 237334707: 237334707
1020 COL6A3 NM_004369.3(COL6A3): c.9148G> A (p.Ala3050Thr) single nucleotide variant Benign/Likely benign rs114596320 GRCh37 Chromosome 2, 238243350: 238243350
1021 COL6A3 NM_004369.3(COL6A3): c.8137A> G (p.Arg2713Gly) single nucleotide variant Conflicting interpretations of pathogenicity rs772602377 GRCh38 Chromosome 2, 237340779: 237340779
1022 COL6A3 NM_004369.3(COL6A3): c.8137A> G (p.Arg2713Gly) single nucleotide variant Conflicting interpretations of pathogenicity rs772602377 GRCh37 Chromosome 2, 238249422: 238249422
1023 COL6A3 NM_004369.3(COL6A3): c.3751G> A (p.Val1251Ile) single nucleotide variant Conflicting interpretations of pathogenicity rs199646208 GRCh38 Chromosome 2, 237372266: 237372266
1024 COL6A3 NM_004369.3(COL6A3): c.3751G> A (p.Val1251Ile) single nucleotide variant Conflicting interpretations of pathogenicity rs199646208 GRCh37 Chromosome 2, 238280909: 238280909
1025 COL6A3 NM_004369.3(COL6A3): c.3009A> T (p.Gly1003=) single nucleotide variant Benign/Likely benign rs769667715 GRCh38 Chromosome 2, 237376833: 237376833
1026 COL6A3 NM_004369.3(COL6A3): c.3009A> T (p.Gly1003=) single nucleotide variant Benign/Likely benign rs769667715 GRCh37 Chromosome 2, 238285476: 238285476
1027 COL6A3 NM_004369.3(COL6A3): c.5646G> T (p.Ser1882=) single nucleotide variant Conflicting interpretations of pathogenicity rs886055807 GRCh38 Chromosome 2, 237365890: 237365890
1028 COL6A3 NM_004369.3(COL6A3): c.5646G> T (p.Ser1882=) single nucleotide variant Conflicting interpretations of pathogenicity rs886055807 GRCh37 Chromosome 2, 238274533: 238274533
1029 COL6A3 NM_004369.3(COL6A3): c.3190C> T (p.Arg1064Trp) single nucleotide variant Conflicting interpretations of pathogenicity rs369810455 GRCh38 Chromosome 2, 237374901: 237374901
1030 COL6A3 NM_004369.3(COL6A3): c.3190C> T (p.Arg1064Trp) single nucleotide variant Conflicting interpretations of pathogenicity rs369810455 GRCh37 Chromosome 2, 238283544: 238283544
1031 COL6A3 NM_004369.3(COL6A3): c.5179C> T (p.Arg1727Trp) single nucleotide variant Conflicting interpretations of pathogenicity rs143074017 GRCh38 Chromosome 2, 237367008: 237367008
1032 COL6A3 NM_004369.3(COL6A3): c.5179C> T (p.Arg1727Trp) single nucleotide variant Conflicting interpretations of pathogenicity rs143074017 GRCh37 Chromosome 2, 238275651: 238275651
1033 COL6A1 NM_001848.2(COL6A1): c.1475C> T (p.Ala492Val) single nucleotide variant Benign/Likely benign rs117340427 GRCh38 Chromosome 21, 45997713: 45997713
1034 COL6A1 NM_001848.2(COL6A1): c.1475C> T (p.Ala492Val) single nucleotide variant Benign/Likely benign rs117340427 GRCh37 Chromosome 21, 47417627: 47417627
1035 COL6A2 NM_001849.3(COL6A2): c.1674G> A (p.Ala558=) single nucleotide variant Conflicting interpretations of pathogenicity rs144334894 GRCh38 Chromosome 21, 46124653: 46124653
1036 COL6A2 NM_001849.3(COL6A2): c.1674G> A (p.Ala558=) single nucleotide variant Conflicting interpretations of pathogenicity rs144334894 GRCh37 Chromosome 21, 47544567: 47544567
1037 COL6A2 NM_001849.3(COL6A2): c.2917G> A (p.Val973Met) single nucleotide variant Uncertain significance rs145959270 GRCh37 Chromosome 21, 47552323: 47552323
1038 COL6A2 NM_001849.3(COL6A2): c.2917G> A (p.Val973Met) single nucleotide variant Uncertain significance rs145959270 GRCh38 Chromosome 21, 46132409: 46132409
1039 COL6A1 NM_001848.2(COL6A1): c.1342G> A (p.Ala448Thr) single nucleotide variant Uncertain significance rs886057153 GRCh38 Chromosome 21, 45994173: 45994173
1040 COL6A1 NM_001848.2(COL6A1): c.1342G> A (p.Ala448Thr) single nucleotide variant Uncertain significance rs886057153 GRCh37 Chromosome 21, 47414087: 47414087
1041 COL6A2 NM_001849.3(COL6A2): c.2503G> A (p.Val835Ile) single nucleotide variant Benign/Likely benign rs117668143 GRCh38 Chromosome 21, 46131995: 46131995
1042 COL6A2 NM_001849.3(COL6A2): c.2503G> A (p.Val835Ile) single nucleotide variant Benign/Likely benign rs117668143 GRCh37 Chromosome 21, 47551909: 47551909
1043 COL6A2 NM_001849.3(COL6A2): c.2788C> T (p.Arg930Cys) single nucleotide variant Uncertain significance rs886057168 GRCh37 Chromosome 21, 47552194: 47552194
1044 COL6A2 NM_001849.3(COL6A2): c.2788C> T (p.Arg930Cys) single nucleotide variant Uncertain significance rs886057168 GRCh38 Chromosome 21, 46132280: 46132280
1045 COL6A2 NM_001849.3(COL6A2): c.*56T> G single nucleotide variant Likely benign rs148337125 GRCh37 Chromosome 21, 47552522: 47552522
1046 COL6A2 NM_001849.3(COL6A2): c.*56T> G single nucleotide variant Likely benign rs148337125 GRCh38 Chromosome 21, 46132608: 46132608
1047 COL6A2 NM_001849.3(COL6A2): c.2856G> A (p.Thr952=) single nucleotide variant Benign/Likely benign rs138074469 GRCh37 Chromosome 21, 47552262: 47552262
1048 COL6A2 NM_001849.3(COL6A2): c.2856G> A (p.Thr952=) single nucleotide variant Benign/Likely benign rs138074469 GRCh38 Chromosome 21, 46132348: 46132348
1049 COL6A2 NM_001849.3(COL6A2): c.2986G> A (p.Val996Met) single nucleotide variant Uncertain significance rs142432514 GRCh37 Chromosome 21, 47552392: 47552392
1050 COL6A2 NM_001849.3(COL6A2): c.2986G> A (p.Val996Met) single nucleotide variant Uncertain significance rs142432514 GRCh38 Chromosome 21, 46132478: 46132478
1051 COL6A3 NM_004369.3(COL6A3): c.3809G> A (p.Arg1270Gln) single nucleotide variant Uncertain significance rs1057518127 GRCh37 Chromosome 2, 238280851: 238280851
1052 COL6A3 NM_004369.3(COL6A3): c.3809G> A (p.Arg1270Gln) single nucleotide variant Uncertain significance rs1057518127 GRCh38 Chromosome 2, 237372208: 237372208
1053 COL6A3 NM_004369.3(COL6A3): c.1867C> T (p.Pro623Ser) single nucleotide variant Uncertain significance rs372022185 GRCh37 Chromosome 2, 238289588: 238289588
1054 COL6A3 NM_004369.3(COL6A3): c.1867C> T (p.Pro623Ser) single nucleotide variant Uncertain significance rs372022185 GRCh38 Chromosome 2, 237380945: 237380945
1055 COL6A2 NM_001849.3(COL6A2): c.1605C> T (p.Pro535=) single nucleotide variant Conflicting interpretations of pathogenicity rs377476546 GRCh37 Chromosome 21, 47542442: 47542442
1056 COL6A2 NM_001849.3(COL6A2): c.1605C> T (p.Pro535=) single nucleotide variant Conflicting interpretations of pathogenicity rs377476546 GRCh38 Chromosome 21, 46122528: 46122528
1057 COL6A3 NM_004369.3(COL6A3): c.5743C> T (p.Arg1915Trp) single nucleotide variant Uncertain significance rs201938007 GRCh37 Chromosome 2, 238274436: 238274436
1058 COL6A3 NM_004369.3(COL6A3): c.5743C> T (p.Arg1915Trp) single nucleotide variant Uncertain significance rs201938007 GRCh38 Chromosome 2, 237365793: 237365793
1059 COL6A3 NM_004369.3(COL6A3): c.3456C> T (p.Ser1152=) single nucleotide variant Benign/Likely benign rs112815265 GRCh37 Chromosome 2, 238283278: 238283278
1060 COL6A3 NM_004369.3(COL6A3): c.3456C> T (p.Ser1152=) single nucleotide variant Benign/Likely benign rs112815265 GRCh38 Chromosome 2, 237374635: 237374635
1061 COL6A3 NM_004369.3(COL6A3): c.576G> A (p.Pro192=) single nucleotide variant Likely benign rs141560881 GRCh37 Chromosome 2, 238303363: 238303363
1062 COL6A3 NM_004369.3(COL6A3): c.576G> A (p.Pro192=) single nucleotide variant Likely benign rs141560881 GRCh38 Chromosome 2, 237394720: 237394720
1063 COL6A3 NM_004369.3(COL6A3): c.4116C> T (p.Asn1372=) single nucleotide variant Likely benign rs369620378 GRCh38 Chromosome 2, 237371901: 237371901
1064 COL6A3 NM_004369.3(COL6A3): c.4116C> T (p.Asn1372=) single nucleotide variant Likely benign rs369620378 GRCh37 Chromosome 2, 238280544: 238280544
1065 COL6A2 NM_001849.3(COL6A2): c.2565C> T (p.Phe855=) single nucleotide variant Conflicting interpretations of pathogenicity rs774805224 GRCh37 Chromosome 21, 47551971: 47551971
1066 COL6A2 NM_001849.3(COL6A2): c.2565C> T (p.Phe855=) single nucleotide variant Conflicting interpretations of pathogenicity rs774805224 GRCh38 Chromosome 21, 46132057: 46132057
1067 COL6A3 NM_004369.3(COL6A3): c.7266A> C (p.Arg2422=) single nucleotide variant Likely benign rs778691629 GRCh37 Chromosome 2, 238253395: 238253395
1068 COL6A3 NM_004369.3(COL6A3): c.7669-2delA deletion Likely pathogenic rs764193290 GRCh37 Chromosome 2, 238250806: 238250806
1069 COL6A3 NM_004369.3(COL6A3): c.7669-2delA deletion Likely pathogenic rs764193290 GRCh38 Chromosome 2, 237342163: 237342163
1070 COL6A3 NM_004369.3(COL6A3): c.2506C> T (p.Arg836Ter) single nucleotide variant Pathogenic rs761796175 GRCh38 Chromosome 2, 237377336: 237377336
1071 COL6A3 NM_004369.3(COL6A3): c.2506C> T (p.Arg836Ter) single nucleotide variant Pathogenic rs761796175 GRCh37 Chromosome 2, 238285979: 238285979
1072 COL6A1 NM_001848.2(COL6A1): c.2434+15_2434+54del40 deletion Benign/Likely benign rs1064795349 GRCh37 Chromosome 21, 47422639: 47422678
1073 COL6A1 NM_001848.2(COL6A1): c.2434+15_2434+54del40 deletion Benign/Likely benign rs1064795349 GRCh38 Chromosome 21, 46002725: 46002764
1074 COL6A1 NM_001848.2(COL6A1): c.2746G> A (p.Val916Ile) single nucleotide variant Uncertain significance rs563043611 GRCh37 Chromosome 21, 47423586: 47423586
1075 COL6A1 NM_001848.2(COL6A1): c.2746G> A (p.Val916Ile) single nucleotide variant Uncertain significance rs563043611 GRCh38 Chromosome 21, 46003672: 46003672
1076 COL6A1 NM_001848.2(COL6A1): c.1848_1850delCCT (p.Leu617del) deletion Uncertain significance rs1085307560 GRCh38 Chromosome 21, 46001278: 46001280
1077 COL6A1 NM_001848.2(COL6A1): c.1848_1850delCCT (p.Leu617del) deletion Uncertain significance rs1085307560 GRCh37 Chromosome 21, 47421192: 47421194
1078 COL6A1 NM_001848.2(COL6A1): c.631C> T (p.Arg211Cys) single nucleotide variant Uncertain significance rs375217284 GRCh37 Chromosome 21, 47406900: 47406900
1079 COL6A1 NM_001848.2(COL6A1): c.631C> T (p.Arg211Cys) single nucleotide variant Uncertain significance rs375217284 GRCh38 Chromosome 21, 45986986: 45986986
1080 COL6A3 NM_004369.3(COL6A3): c.8437G> A (p.Gly2813Arg) single nucleotide variant Uncertain significance rs146131332 GRCh37 Chromosome 2, 238249122: 238249122
1081 COL6A3 NM_004369.3(COL6A3): c.8437G> A (p.Gly2813Arg) single nucleotide variant Uncertain significance rs146131332 GRCh38 Chromosome 2, 237340479: 237340479
1082 COL6A3 NM_004369.3(COL6A3): c.9344C> T (p.Pro3115Leu) single nucleotide variant Uncertain significance rs138109666 GRCh37 Chromosome 2, 238234352: 238234352
1083 COL6A3 NM_004369.3(COL6A3): c.9344C> T (p.Pro3115Leu) single nucleotide variant Uncertain significance rs138109666 GRCh38 Chromosome 2, 237325709: 237325709
1084 COL6A3 NM_004369.3(COL6A3): c.4432G> A (p.Val1478Met) single nucleotide variant Uncertain significance rs374493032 GRCh37 Chromosome 2, 238277674: 238277674
1085 COL6A3 NM_004369.3(COL6A3): c.4432G> A (p.Val1478Met) single nucleotide variant Uncertain significance rs374493032 GRCh38 Chromosome 2, 237369031: 237369031
1086 COL6A3 NM_004369.3(COL6A3): c.3598G> T (p.Val1200Phe) single nucleotide variant Uncertain significance rs779028054 GRCh37 Chromosome 2, 238283136: 238283136
1087 COL6A3 NM_004369.3(COL6A3): c.3598G> T (p.Val1200Phe) single nucleotide variant Uncertain significance rs779028054 GRCh38 Chromosome 2, 237374493: 237374493
1088 COL6A3 NM_004369.3(COL6A3): c.3220G> A (p.Asp1074Asn) single nucleotide variant Uncertain significance rs778403814 GRCh37 Chromosome 2, 238283514: 238283514
1089 COL6A3 NM_004369.3(COL6A3): c.3220G> A (p.Asp1074Asn) single nucleotide variant Uncertain significance rs778403814 GRCh38 Chromosome 2, 237374871: 237374871
1090 COL6A1 NM_001848.2(COL6A1): c.2876T> C (p.Val959Ala) single nucleotide variant Uncertain significance rs144814689 GRCh37 Chromosome 21, 47423716: 47423716
1091 COL6A1 NM_001848.2(COL6A1): c.2876T> C (p.Val959Ala) single nucleotide variant Uncertain significance rs144814689 GRCh38 Chromosome 21, 46003802: 46003802
1092 COL6A3 NC_000002.12: g.(?_237333450)_(237334889_?)del deletion Uncertain significance GRCh38 Chromosome 2, 237333450: 237334889
1093 COL6A3 NC_000002.12: g.(?_237362747)_(237372158_?)del deletion Uncertain significance GRCh38 Chromosome 2, 237362747: 237372158
1094 COL6A3 NM_004369.3(COL6A3): c.7266A> C (p.Arg2422=) single nucleotide variant Likely benign rs778691629 GRCh38 Chromosome 2, 237344752: 237344752
1095 COL6A3 NM_004369.3(COL6A3): c.5534G> C (p.Gly1845Ala) single nucleotide variant Uncertain significance rs747200439 GRCh38 Chromosome 2, 237366002: 237366002
1096 COL6A3 NM_004369.3(COL6A3): c.5534G> C (p.Gly1845Ala) single nucleotide variant Uncertain significance rs747200439 GRCh37 Chromosome 2, 238274645: 238274645
1097 COL6A3 NM_004369.3(COL6A3): c.4873G> T (p.Val1625Leu) single nucleotide variant Uncertain significance rs398124121 GRCh38 Chromosome 2, 237368590: 237368590
1098 COL6A3 NM_004369.3(COL6A3): c.5869G> A (p.Gly1957Arg) single nucleotide variant Uncertain significance rs554219567 GRCh37 Chromosome 2, 238273041: 238273041
1099 COL6A3 NM_004369.3(COL6A3): c.5869G> A (p.Gly1957Arg) single nucleotide variant Uncertain significance rs554219567 GRCh38 Chromosome 2, 237364398: 237364398
1100 COL6A3 NM_004369.3(COL6A3): c.2517G> A (p.Leu839=) single nucleotide variant Likely benign rs187237497 GRCh37 Chromosome 2, 238285968: 238285968
1101 COL6A3 NM_004369.3(COL6A3): c.2517G> A (p.Leu839=) single nucleotide variant Likely benign rs187237497 GRCh38 Chromosome 2, 237377325: 237377325
1102 COL6A3 NM_004369.3(COL6A3): c.1293G> A (p.Pro431=) single nucleotide variant Conflicting interpretations of pathogenicity rs376912950 GRCh37 Chromosome 2, 238296244: 238296244
1103